04. Ataxia telangiectasia volume 2

Transcrição

2ª Edição – Revisada e Ampliada
ATAXIA TELANGIECTASIA
LIVRO PARA FAMÍLIAS E PORTADORES
Brazilian Group for Immunodeficiency
ATAXIA TELANGIECTASIA - LIVRO PARA FAMÍLIAS E PORTADORES
BRAGID
2ª edição – Revisada e Ampliada – maio 2.011
AGRADECIMENTOS
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APOIO E REALIZAÇÃO
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5
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PROJETO AT/BRASIL
Maria Angélica Lodovici
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9
CAPÍTULO 1
@ARST"U>CBV"PB"B7BWAB"7>VB?UA>#7BRAB""X""B;7
Howard Lederman – M.D., PhD
Division of Pediatric Allergy and Immunology, Johns Hopkins Hospital
Thomas O. Crawford - M.D.
Neurology Department, Johns Hopkins Hospital
Baltimore - EUA
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Os sintomas mais característicos dos pacientes com A-T são a perda de
equilíbrio, da coordenação motora (ataxia) e o aparecimento de pequenos vasos sanguíneos no branco dos olhos (telangiectasias) que pode
ser confundido com “olhos irritados”.
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degeneração do Cerebelo
(ataxia)
movimentação anormal dos olhos
telangiectasia
dificuldade para
engolir e falar
infecções
pulmonares
imunodeficiência
puberdade
incompleta ou
atrasada
linfoma ou
outros tipos de
cancer
Fig. 1-1: A ataxia telangiectasia afeta vários sistemas do corpo.
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A-T é uma doença hereditária de herança autossômica recessiva causa,(!0+'!2-!,&6&5%+!>&8G%5.+!$+.($5H(,+!8+!.'+-+11+-+!IIF!B('(!%&'!#J?K!
ou seja, para desenvolver a doença, a pessoa precisa de 2 genes com
defeito. Estes genes foram herdados um do pai e outro da mãe, que por
terem apenas 1 gene defeituoso, não desenvolvem a doença.
" P" '$($" /$3E.(3M4$%" E$%&"?V>" i" A<&,&0." '$($"?>9" ^?)&@*&">$%&('*$A)&3*&" 9-)&)$0" V"
&)&@*&" )$%&('*$A)&3*&" A.," ,-)&12.a" X-$" E/.0-+" &" E/.)$[(&"?>" ,.0*h"A&0&5" #$33.&3" A.,"
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$"."'$($"?>9;")$()&(0."A.,E/$$(0$/",&*3"3.S/$"A.,."$%&"&)-&;"."X-$"$%&"T&+"$"E./"X-$"&"
3-&"T&%)&"A&-3&".3"E/.S%$,&3".S3$/4&0.3"(.3"*(0*4[0-.3"A.,"?V>5
EVOLUÇÃO DA DOENÇA
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13
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S&3)&()$"T/$X-q(A*&5
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,$,$()$5"?",&*./*&"3$"0$3$(4.%4$"S$,"(&"E/iV$3A.%&;"$,S./&"-,"E.-A.",&*3"0$4&'&/5"
g$3)&"T&3$"i",-*)."A.,-,"X-$"3$O&,"$//.($&,$()$"0*&'(.3)*A&0.3"A.,"E&/&%*3*&"A$/$S/&%"
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&(0&/"$"(."$X-*%[S/*.;"E/.S%$,&3"A.,"&"$3A/*)&;"."&E&/$A*,$()."0$",.4*,$().3"0*T$/$()$3"
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E/.S%$,&3"&33.A*&0.3"&."&E&/$A*,$()."0.3"4&3.3"3&('-[($.3"^)$%&('*$A)&3*&3a"(."S/&(A."
0.3".%<.3"i"X-$"*(0-+$,"&."0*&'(k3)*A."0&"?V>5"B.,".")$,E."$3)&3"0*h"A-%0&0$3")./(&,V3$"
,&*3"$4*0$()$3;"O-()&(0.V3$"&"$%&3".3",.4*,$().3"*(4.%-()M/*.3"0.3"S/&1.3"$"E$/(&3"$"&"
T&%)&"0$"A.()/.%$"0$")/.(A.5
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.-"E($-,.(*&5">$,")&,Si,"'/&(0$"A<&(A$"0$"0$3$(4.%4$/"Ar(A$/;"$,"E&/)*A-%&/"&X-$%$3"
X-$"&)&A&,"."3*3)$,&"*,-(.%k'*A."A.,."."%*(T.,&5
O desenvolvimento da A-T varia enormemente de paciente para paciente. Alguns cursam o 2º grau, têm vida independente e outros, embora seja raro, ultrapassam os 50 ou 60 anos.
TRATAMENTO
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/$3E$*)."t3"*(T$A1Y$3"$".-)/&3"0.$(1&3;"&O-0&(0."&"E$33.&"&"E$/,&($A$/")2."&)*4&"$"*(V
0$E$(0$()$" X-&()." E.33[4$%5"?3" T&,[%*&3" 0$4$," $(A./&O&/" &3" A/*&(1&3" &" T/$X-$()&/$," &"
$3A.%&"$",&()$/$,"-,"$3)*%."0$"4*0&".",&*3"(./,&%"E.33[4$%5
" 9$0*A&12."E&/&"A.()/.%&/"&",.4*,$()&12."$@)/&"0.3"S/&1.3"$"E$/(&3"E.0$"3$/"E/$3A/*)&5"
J()/$)&().;"($(<-,&",$0*A&12."0$,.(3)/.-"A*$()*h"A&,$()$",$%<./&"0.3"3*().,&3".-"0&"
0.$(1&" E/.E/*&,$()$" 0*)&5" P3" E&*3;" &33*," A.,." &" $X-*E$" ,i0*A&" X-$" &33*3)$" ." E&A*$(V
)$;"0$4$,"$3)&/"&)$().3"E&/&"*(T$A1Y$3"A.,."&"3*(-3*)$".-"*(T$A1Y$3"E-%,.(&/$3"$"*(*A*&/"
*,$0*&)&,$()$".")/&)&,$()."&0$X-&0.5"6$4$"3$/"0&0&"&)$(12."$3E$A*&%"E&/&"&"(-)/*12."$"
E/.S%$,&3"A.,"&"0$'%-)*12.5
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E.0$,"&O-0MV%&3"(&3"&)*4*0&0$3"0*M/*&35"?"T.(.&-0*.%.'*&"E.0$"&O-0MV%&3"(&"A.,-(*A&12.;"
&33*,"A.,."(&"0$'%-)*12.5"?")$A(.%.'*&"&33*3)*4&"T&A*%*)&"&3"&)*4*0&0$3"0*M/*&3;")&()."$,"A&3&"
A.,."(&"$3A.%&".T$/$A$(0.",&)$/*&%"&0&E)&0."t3"($A$33*0&0$3"0$"A&0&"-,5"
Todas estas terapias têm como objetivo ajudar as crianças a usar da
melhor forma possível as habilidades motoras que possuem. Utilizando
diferentes estratégias podem desenvolver formas de improvisar “funções” para as atividades diárias, apesar da di=culdade motora.
" g$(<-,")*E."0$")$/&E*&;",$3,."X-$"*()$(3&,$()$"E/&)*A&0&;"0$,.(3)/.-"&%)$/&/"."A-/V
3."0&"0.$(1&5
14
Yosef Shiloh - PhD
Dept. of Human Genetics, Tel Aviv University
Tel Aviv - Israel
PROTEÍNAS E GENES
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T-(12."$3E$A[h"A&"0$()/."0&"Ai%-%&5"D-()&3;"&3"E/.)$[(&3"&0,*(*3)/&,"."0$3$(4.%4*,$()."$"
&3"T-(1Y$3"0$"A&0&"Ai%-%&"(."A./E.5"
Fig. 2-1: Blocos de aminoácidos formam as grandes moléculas de proteínas.
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E&/&"h"%<.35
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E."A$/).;"$"&"T-(12."h"3*.%k'*A&"A.//$3E.(0$()$"i"$T$)-&0&"0$",&($*/&"&E/.E/*&0&5"v-&(0."
-," '$($" &E/$3$()&" -,&" 4&/*&12." ^,-)&12.a;" &" E/.)$[(&" .-" (2." i" E/.0-+*0&" E./" *()$*/."
.-"A&//$'&"-,&"4$/32."0$T$*)-.3&"$"(2."E.0$"$@$/A$/"3-&"T-(12."A.//$)&,$()$5"?3"A.(V
3$X-q(A*&3"0&3",-)&1Y$3"E.0$,"3$/",M"T./,&12."A.('q(*)&;"0$T$*).3",$)&Sk%*A.3".-"."
0$3$(4.%4*,$()."0$"&(.,&%*&35"?"?V>"i"-,&"0$33&3"&%)$/&1Y$3"'$(i)*A&35
T"U>?>"B;7
O gene causador da A-T foi identi=!.(,+!&-!ILLM!&!8+-&(,+!#?:!!N#J?!
modi=cado).
15
CAPÍTULO 2
T"U>?>"LB;7M">"RfB"DCT7>h?B"LB7bM
" |"-,"$@)$(3."'$($"(."A/.,.33.,."``"X-$"A.()i,",&*3"0$"`_n5nnn"S&3$3"0."6g?"$"i"
./'&(*+&0."$,"cc"3$',$().3"^$@.(3a"X-$"A.()q,"&"A.0*h"A&12."0&"$3)/-)-/&"0$"3$-"E/.0-V
).;"&"E/.)$[(&"?>95
" Q./&,"$(A.()/&0&3",-)&1Y$3"$,").0&3"&3"E&/)$3"0."'$($"?>9"$,"4M/*.3"3$',$().3"
0."6g?"0.3"E&A*$()$3"E./)&0./$3"0&"?V>5"?",&*./"E&/)$"0&3",-)&1Y$3"X-$"A&-3&,"&"?V>"
&A&//$)&,"E/.0-12."*(&0$X-&0&"0&"E/.)$[(&"?>95"PS3$/4.-V3$"X-$"(.3"A&3.3"0$"?V>",.V
0$/&0.3;"&",-)&12."E$/,*)*-"&"E/.0-12."0$"E$X-$(&3"X-&()*0&0$3"0&"E/.)$[(&"?>95"
T"ef>"IBi"B"DCT7>h?B"B7bg
" ?"0$3A.S$/)&"0."'$($"?>9"&S/*-"A&,*(<."E&/&"X-$"'/-E.3"0$"E$3X-*3&"$3)-0&33$,"&"
E/.)$[(&"$"3-&"A.0*h"A&12.5"Z3)."(2."$/&"E.33[4$%"&()$3"0."'$($"3$/"*3.%&0.;"E.*3"&"*(T./,&V
12."A.()*0&"($%$"$/&"$33$(A*&%"E&/&"&"*0$()*h"A&12."0&"E/.)$[(&"?>95"
" #./" $@$,E%.;" -," 0.3" A&,*(<.3VA<&4$" E&/&" *0$()*h"A&12." 0&" E/.)$[(&" i" ." 0$3$(4.%4*V
,$()." 0$" &()*A./E.3" $3E$A[h"A.3" X-$" 3$" %*'&," &" $%&5"?" E/.0-12." 0$" &()*A./E.3" i" ,-*)."
,&*3" TMA*%" X-&(0." &" 3$X-q(A*&" '$(i)*A&" i" A.(<$A*0&5" P-)/." S$($T[A*." 0$" A.(<$A$/V3$" &"
3$X-q(A*&"'$(i)*A&"i"&"E.33*S*%*0&0$"0$"A/*&/"-,"'$($"?>9"&/)*h"A*&%"$,")-S."0$"$(3&*."X-$"
E.33&"3$/"*()/.0-+*0."(&"Ai%-%&"E&/&"E/.0-+*/"&"E/.)$[(&"?>9"$"3&S$/"3-&3"A.(3$X-q(A*&3"
(."./'&(*3,.5
" ?3" $@E$/*q(A*&3" A.," A.S&*&3" $," %&S./&)k/*." )&,Si," 32." *,E./)&()$35" |" A/*&0&" -,&"
,-)&12."(."'$($"0."/&).;"A.//$3E.(0$()$"&."'$($"?>9"<-,&(.;"E/.0-+*(0."(."&(*,&%"."
,$3,.",.0$%."0$"?V>5">.0&3"$33&3"T$//&,$()&3"$3)2."0*3E.([4$*3"E&/&"$3)-0&/"&"E/.)$[(&"
?>9"$"3-&3"T-(1Y$35
" J@)$(3&3"E$3X-*3&3"0&""?>9"/$4$%&/&,"-,&"'/&(0$"E/.)$[(&"A.,"o5n_c"&,*(.MA*0.35"
?" E/.)$[(&"?>9" i" A&E&+" 0$" *()$/&'*/" h"3*A&,$()$" A.," ,-*)&3" .-)/&3" E/.)$[(&3" 0&" Ai%-%&;"
E/.4.A&(0.",.0*h"A&1Y$3"X-[,*A&3"*,E./)&()$3"X-$"&%)$/&,"3-&3"&)*4*0&0$35
! O-(!P85.(!0'+%&78(!.+-+!(!#?:K!!0+,&!.+8%'+$('!(!(%5;5,(,&!,&!+2%'(1!
“proteínas alvo”, cada uma responsável por uma função diferente.
" 6$3)&"T./,&;"$3)$"=B.()/.%&0./"B<$T$"0.3"#/.A$33.3"Q*3*.%k'*A.3C")$,"."E.0$/"0$"&T$)&/"
,u%)*E%&3"T-(1Y$3"0&"Ai%-%&"&.",$3,.")$,E.5
! Q!RSES!#J?
! "! T+.($5H(,+!8+!.'+-+11+-+!II
! "! 4+'-(,+!0+'!IMUFUUU!9(1&1!,&!<E#!N82.$&+%7,&+1V!&!+'>(85H(,+!&66 segmentos (exons)
! "! D+,5=ca uma proteína que:
- É muito extensa e composta por 3.056 aminoácidos
! ! J!!W!'&10+81X;&$!0&$+!'&0('+!,+!<E#K!(%5;(8,+!(!'&10+1%(!.&$2$('
quando ocorre a sua quebra
! ! J!!Y8.$25!-&.(851-+1!,&!'&0('+1!8+!<E#!&!;X'5+1!+2%'+1!0'+.&11+1
16
" ?"E/.)$[(&"?>9"i"$(A.()/&0&"(."(uA%$."0&"Ai%-%&;"E/k@*,."&."6g?5"K,&"E$X-$(&"X-&(V
)*0&0$"0$"?>9"i""$(A.()/&0&")&,Si,"T./&"0."(uA%$.;".(0$"$3)M"%*'&0&"&"4M/*&3"$3)/-)-/&3"
A$%-%&/$35"?"E/.)$[(&"?>9")$,"4M/*.3"0.,[(*.3;"A&0&"-,"A.,"T-(12."0*T$/$()$5"K,"0$%$3;"
A<&,&0."0$"0.,[(*."#ZVo"X-*(&3$;"i"/$3E.(3M4$%"E$%&"&)*4*0&0$"$(+*,M)*A&"0&"?>9;"X-$"%<$"
E$/,*)$"*(0-+*/",.0*h"A&1Y$3"X-[,*A&3"$,"3-&3"T-(1Y$3
Uma das principais
tarefas da prote78(! #?:! G! (%5;('!
as respostas celulares aos danos
.(21(,+1! 8+! <E#!
por radiação, processos químicos
ou pelo metabolismo celular normal.
Cromossomo 11
Gene ATM
Proteína
ATM
Rad 3
Domínio
PI 3
Quinase
Fig. 2-2: O gene ATM no cromossomo 11 codi!ca uma proteína extensa e multifuncional – a ATM.
" ?"%$32."0."6g?"X-$"&)*4&"&"?>9"i"A<&,&0&"0$"=6.-S%$"3)/&(0"S/$&FC".-"3$O&"/-E)-/&"
0-E%&"(&"A&0$*&"0."6g?5"J3)&3"X-$S/&3"32.".3"0&(.3",&*3"A/[)*A.3"A&-3&0.3"E$%&"/&0*&V
12."$"E./"&%'-(3",$0*A&,$().35"#./"$3)$",.)*4.".3"A/.,.33.,.3"0.3"E&A*$()$3"A.,"?V>"
&E/$3$()&,"*()$/4&%.3",u%)*E%.3"$,"3$-3"A/.,.33.,.3"$"3-&3"Ai%-%&3"32.")2."3$(3[4$*3"t"
/&0*&12.5"J3)$3"*()$/4&%.3"32."0$)$A)&0.3"E./"-,&"E/.)$[(&"$3E$A[h"A&"0$(.,*(&0&"&E/.V
E/*&0&,$()$"0$"=3$(3./$3C"$"X-$")/&(3,*)$,"&",$(3&'$,"E&/&"&"?>9""0$"X-$"."6g?"T.*"
0&(*h"A&0.5"J()2.;"&"?>9"i"&)*4&0&\"&-,$()&"3*'(*h"A&)*4&,$()$"3-&3"&)*4*0&0$3"S*.X-[,*V
A&3" X-$" /&E*0&,$()$" ,.0*h"A&," &3" h"(&%*0&0$3" 0&3" E/.)$[(&3;" A&0&" -,&" $(A&//$'&0&" 0$"
-,&"/$3E.3)&"$3E$A[h"A&5"K,&"/$3E.3)&"kS4*&"i"&"/$A.(3)*)-*12."0."6g?5"P-)/&"/$3E.3)&"i"
3-3E$(0$/")$,E./&/*&,$()$"&"0*4*32."A$%-%&/")$(0.",&*3")$,E."E&/&"&"/$A.(3)*)-*12.5"J,"
Ai%-%&3"(./,&*3;"$33&3"/$3E.3)&3"'$/&%,$()$"%$4&,"t"/$A-E$/&12."$"3.S/$4*4q(A*&"A$%-%&/"
&Ek3"0&(."&."6g?5"9&3;"3$"&"&%)$/&12."(."6g?"i",-*)."'/&(0$"$"&"?>9"(2."A.(3$'-$"
A.(3$/)&/" $3)$" 6g?;" &3" Ai%-%&3" E.0$," $()/&/" $," &E.E).3$" ^,./)$" A$%-%&/" E/.'/&,&0&a5"
B.(3$X-$()$,$()$;"&3"Ai%-%&3"0$"E&A*$()$3"A.,"?V>"32.",-*).",&*3"3$(3[4$*3"t"/&0*&12."
$"$%&3"E.0$,"=,.//$/C".-"0$3$(4.%4$/"0&(.3"*//$E&/M4$*3"(.3"A/.,.33.,.3;"."X-$"E.0$"
A.()/*S-*/"E&/&"."0$3$(4.%4*,$()."0$"&%'-,")*E."0$"Ar(A$/5
" P"'$($"?>9;",$0*&0./"0.3"0&(.3"0."6g?;"i"$@)/$,&,$()$"A.,E%$@."$"$(4.%4$"A$()$V
(&3"0$"E/.)$[(&35"6$3)&"T./,&;"-,"0.3"E/*(A*E&*3".SO$)*4.3"0&"E$3X-*3&"0&"?V>"i"*0$()*h"A&/"
).0&3" &3" T-(1Y$3" X-$" &" E/.)$[(&"?>9" E.33&" )$/;" 3-&3" E/.)$[(&3" &%4." " $" .-)/&3" E/.)$[(&3"
17
A.,"&3"X-&*3"$%&"*()$/&'$5"?"?>9")&,Si,"E.0$"T-(A*.(&/"$,"/$3E.3)&"&".-)/.3")*E.3"0$"
$3)/$33$;" E./)&().;" *0$()*h"A&/" $3)$3" (.4.3" E/.A$33.3" ,$0*&0.3" E$%&"?>9" i" -," A&,*(<."
*,E./)&()$"0&"*(4$3)*'&12.;"E&/&"A.,E/$$(0$/".",$A&(*3,."E$%."X-&%"&""?>9"i"&)*4&0&"5
" B.,E/$$(0$(0."&3"T-(1Y$3"0&"?>9"$"A.,."$%&3"&'$,;"3$/M"E.33[4$%"0$3$(4.%4$/",$V
0*A&,$().3"X-$"$3)*,-%$,"&3"&)*4*0&0$3"0$E$(0$()$3"0$%&"$"X-$"(2."32."/$&%*+&0&3"0$"
T./,&"&0$X-&0&5"J3E$/&,.3"X-$"3$O&"E.33[4$%"A.,E$(3&/"E$%.",$(.3"E&/A*&%,$()$"&"E$/V
0&"0&"?>9"$"&33*,"",$%<./&/"&3"T-(1Y$3"(./,&%,$()$"A.()/.%&0&3"E./"$%&5"J3)&3"E/.)$[(&3"
/$)&/0&,"&"/$E%*A&12."0&3"Ai%-%&3"$"*(0*A&,"&"3.%-12.",&*3"&0$X-&0&"E&/&"$%&5
Radiação iônica,
medicamentos,
metabólitos celulares
DNA alterado
ATM
Alvo 1
Alvo 2
Alvo 3
Respostas fisiológicas:
reparos do DNA,
suspensão temporária
da replicação celular
Sobrevivência
celular
Morte programada
das células (Apoptose)
Fig. 2-3: A ATM percebe um dano no DNA, em resposta modi!ca outras proteínas “alvo”.
Estas proteínas retardam a replicação das células e indicam a solução mais adequada para
ela.
18
Howard M. Lederman - M.D., Ph.D.,
Professor of Pediatrics, Medicine and Pathology
Baltimore - EUA
""""""""""""?"?V>"i"-,&"0.$(1&"<$/$0*)M/*&;".-"3$O&;")/&(3,*)*0&"0&",$3,&"T./,&"X-$"&3""(.33&3"
A&/&A)$/[3)*A&3"T[3*A&3"$"X-[,*A&3"."32.;"0.3"E&*3"E&/&".3"h"%<.35"?%'-(3"$@$,E%.3"0$3)&3"
A&/&A)$/[3)*A&3"32.\"&"A./"0.3".%<.3;"&"A./"0."A&S$%."$")*E."0$"3&('-$5"P3"T&)./$3"X-$"0$V
)$/,*(&,"$3)&3"A&/&A)$/[3)*A&3;"&33*,"A.,.",-*)&3"0&3".-)/&3"X-$"T&+$,"0$"A&0&"E$33.&"
-,"3$/"u(*A.;"32.".3"'$($35"J3)$3"3$"&'/-E&,"A.,."$3)/-)-/&3"3$,$%<&()$3"&"-,"A./02.;"
3$(0."0$(.,*(&0.3"0$"A/.,.33.,.35">.0&3"&3"Ai%-%&3"0."(.33."A./E.")q,").0.3".3"A/.V
,.33.,.3;"$"A.,"$%$3").0.3".3"'$($3;"($A$33M/*.3"E&/&"4*4$/,.35
" B&0&"-,&"0$"(.33&3"Ai%-%&3")$,"eo"E&/$3"0$"A/.,.33.,.35"K,"$%$,$()."0$"A&0&"E&/"
0$"A/.,.33.,.3"i"<$/0&0."0&",2$;"$(X-&().".".-)/."i"<$/0&0."0."E&*5"B.,.".3"'$($3"
$3)2."($33$3"A/.,.33.,.3;"(k3")&,Si,"<$/0&,.3"-,"'$($"E&/&"-,&"0$)$/,*(&0&"A&/&AV
)$/[3)*A&"Â.,.;"E./"$@$,E%.;"&"A./"0.3".%<.3a"0$"(.33&",2$"$".-)/."'$($"E&/&"$3)&",$3,&"
A&/&A)$/[3)*A&"0."(.33."E&*5
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k4-%."$"$3E$/,&).+k*0$"3$"-($,"E&33&,"&")$/"eo"E&/$3"0$"A/.,.33.,.3"^dc"(.").)&%a5"K,"
A/.,.33.,."0$"A&0&"E&/;"$"&E$(&3"-,;"$3)M"$,"A&0&"k4-%.".-"$3E$/,&5"v-&(0.".A.//$"
&"T$/)*%*+&12."0."k4-%.;".3"eo"A/.,.33.,.3"0."k4-%."A.,S*(&,"^-($,V3$a"&.3"eo"A/.,.3V
3.,.3"0."$3E$/,&"$"T./,&,"."(u,$/.").)&%"0$"dc5"#./)&().;")&()."."E&*"X-&()."&",2$;"
A.()/*S-$,"A.,",$)&0$"0&"*(T./,&12."'$(i)*A&"0$"A&0&"h"%<.5
HEREDITÁRIA AUTOSSÔMICA RECESSIVA
" B0.$//j325$"V"X-&%X-$/"A/.,.33.,."(2."0$)$/,*(&()$"0."3$@.;".-"3$O&;"(."3$/"<-,&V
(."$@*3)$,"ee"E&/$3"0$"A/.,.33.,.3",&*3"-,"E&/"0$"A/.,.33.,.3"X-$"0$)$/,*(&"."[email protected]
A-T é um distúrbio autossômico recessivo. Isto signi=ca que a doença
só ocorre se o paciente tiver os 2 genes anormais (um do pai e outro da
mãe).
" R$"-,&"E$33.&"<$/0&"&E$(&3"-,"'$($"0&"?V>;"$()2."$%$"i"-,"E./)&0./"0."'$($;",&3"
(2." 0$3$(4.%4$" &"?V>5" g*('-i," i" /$3E.(3M4$%" E./" $3)$3" '$($3" &%)$/&0.35" g&" /$&%*0&0$;"
A&0&"-,"0$"(k3"E.33-*",-)&1Y$3"$,",-*).3"'$($3"0*T$/$()$3;".3"X-&*3"E.0$,"A&-3&/"0.V
$(1&3"3$"<$/0&0.3"0$"&,S.3".3"E&*35"Q$%*+,$()$;"(&",&*./*&"0.3"A&3.3;"(k3")$,.3"-,"0.3"
E&/$3"(./,&%"(.",.,$()."0&"T./,&12."0.3"A/.,.33.,.3;"$"-,"'$($"(./,&%"i"3-h"A*$()$"
E&/&"$4*)&/"."0$3$(4.%4*,$()."0&"0.$(1&5
" ?)i"."E/$3$()$",.,$().;"(2."3&S$,.3"3$".3"E./)&0./$3"0&"?V>"E.33-$,"&%'-,")*E."0$"
&%)$/&12.5"?E&/$()$,$()$"$%$3"(2."&E/$3$()&,"E/.S%$,&3"($-/.%k'*A.3".-"0$"*,-(.0$h"A*V
q(A*&5"
" #&/$A$" <&4$/" -,&" E/.S&S*%*0&0$" -," E.-A." ,&*./" 0$" 3-/'*,$()." 0$" Ar(A$/" $()/$" .3"
E./)&0./$3"0."'$($"E&/&"?V>;"$()/$)&()."*3)."&*(0&"(2."$3)M"A.,E/.4&0.5
19
CAPÍTULO 3
HEREDITARIEDADE
" J,"<$/$0*)&/*$0&0$"&-).33},*A&"/$A$33*4&;"E.0$,"3$/"$(A.()/&0.3")&,Si,"*/,2.3"$"
*/,23"&T$)&0.35"7.,$(3"$",-%<$/$3"32."&T$)&0.3"(&3",$3,&3"E/.E./1Y$35"P3"E&*3"Ê&*"$"
,2$a"E.33-$,"."'$($"0&"0.$(1&"$,S./&"$%$3"E/kE/*.3"3$O&,"3&-0M4$*35
" #&*3"E./)&0./$3"0."'$($"0."?V>"E.0$,")$/")/q3")*E.3"0*T$/$()$3"0$"S$Sq3"(."X-$"0*+"/$3V
E$*)."&"$3)$"'$($5"v-&(0."-,"k4-%.".-"$3E$/,&"i"E/.0-+*0.;"-,&".-".-)/&"AkE*&"0$"A&0&"
A/.,.33.,."i"$3A.%<*0&"0$"T./,&"&%$&)k/*&"E&/&"3$/"$(4.%4*0.5"J()2.;"&",2$"E.0$"E/.0-+*/"
0.*3")*E.3"0$"k4-%.3"V"-,"A.,"."'$($"0&"?V>"$"-,"A.()$(0."."'$($"(./,&%5"6&",$3,&"
T./,&;"."E&*"E.0$"E/.0-+*/"0.*3")*E.3"0$"$3E$/,&"V"-,"A.,"."A/.,.33.,."A.()$(0."."'$($"
0&"?V>"$".-)/."A.,"."'$($"(./,&%5
A h"'-/&"&S&*@."*%-3)/&"A.,."&A.()$A$"&"<$/$0*)&/*$0&0$"(&"?V>5
Mãe portadora
Pai portador
Óvulo
Criança com
A-T
Esperma
Criança
Portadora
Criança
Portadora
Criança Normal
Fig. 3.1: A-T é um distúrbio autossômico recessivo. Quando uma criança herda um gene
anormal da A-T de cada um dos pais, ela desenvolverá A-T. Se um gene anormal for herdado de somente um dos pais, a criança será portadora.
20
" R$"-,"k4-%."A.()$(0."."A/.,.33.,."0&"?V>"A.,S*(&/"A.,"-,"$3E$/,&")&,Si,"A.,"
A/.,.33.,."0&"?V>;"&X-$%&"A/*&(1&")$/M"?V>"E./X-$"$%&")$,".3"e"'$($3"0&"?V>"$"($(<-,"
'$($"(./,&%"E&/&"&(-%MV%.35
" R$"-,"k4-%."A.()$(0."."'$($"0&"?V>"A.,S*(&/"A.,"-,"$3E$/,&"X-$")$(<&"-,"A/.,.3V
3.,."(./,&%;"&X-$%&"A/*&(1&"3$/M"&E$(&3"E./)&0./&~"S&3)&"&E$(&3"-,&"AkE*&"(./,&%"0."
'$($"E&/&"$4*)&/".3"3*().,&3"0&"?V>5
" 6&",$3,&"T./,&;"3$"-,"k4-%."X-$")$(<&"."'$($"(./,&%"A.,S*(&/"A.,"-,"$3E$/,&"X-$"
A.()$(<&"."A/.,.33.,."A.,"."'$($"0&"?V>;"$3)&"A/*&(1&"3$/M"&E$(&3"E./)&0./&5
" R$"-,"k4-%."A.,"A/.,.33.,."(./,&%"A.,S*(&/"A.,"-,"$3E$/,&"A.,"A/.,.33.,."
(./,&%;"3$/M"-,&"A/*&(1&"(./,&%;"&"X-&%"(2."i"($,"E./)&0./&"$"($,"0$3$(4.%4$/M".3"3*(V
).,&3"0&"?V>5
" ?3"A<&(A$3"E&/&"-,"0$)$/,*(&0."k4-%."A.,S*(&/"A.,"-,"0$)$/,*(&0."$3E$/,&"32."
A.,E%$)&,$()$"&%$&)k/*&35
! <&!(.+',+!.+-!(1!$&51!,(!0'+9(95$5,(,&K!(1!./(8.&1!,&!.(,(!>'(;5,&H!,&!
pais portadores do gene da A-T, terá as possibilidades abaixo descritas:
! "! D'5(8)(!.+-!#J?!Z!I!&-![!./(8.&1!+2!\M]F
! "! D'5(8)(!0+'%(,+'(!Z!\!&-![!./(8.&1!+2!MU]F
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-,&"A/*&(1&"A.,"?V>"0$"-,&"E/*,$*/&"'/&4*0$+;"(2."3*'(*h"A&"X-$"$,"-,&"E/k@*,&"'/&4*0$+"
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?V>"&*(0&"3$/2."0$"e_w".-"`"$,"d"A<&(A$3"$,"A&0&"'/&4*0$+5"m&%$"%$,S/&/"X-$"-,"*/,2."
3&-0M4$%"0$"-,&"A/*&(1&"A.,"?V>")$,"e"A<&(A$3"$,"o"^cbwa"0$"3$/"-,"E./)&0./5
OPÇÕES PARA REPRODUÇÃO
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21
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22
Thomas O. Crawford - MD
Neurology Department, Johns Hopkins Hospital
Baltimore - EUA
A NEUROLOGIA E A ATAXIA TELANGIECTASIA
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4$%€C;"E.*3"3$"&3"4&/*&1Y$3"0$"?V>"32.")&()&3"$"A.,E/.,$)$,"($-/.%.'*A&,$()$"."Ai/$S/.;"
A.,.",-*)&3"E&/)$3"0$%$"T-(A*.(&,"X-&3$"X-$"(./,&%,$()$€"P3"E./)&0./$3"0&"?V>"$"3$-3"
T&,*%*&/$3"S-3A&,"T./,&3"*()$%*'$()$3"0$"3-E$/&/".3"0&(.35"J3)$"i"-,"E/.A$33."A.()[(-."
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*,E./)&()$3"$"0*T$/$()$3",&(*T$3)&1Y$3"($-/.%k'*A&3"0&"?V>5
Ataxia se refere à perda da coordenação motora.
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A&-3&0.3"E./"0&(.3"$,".-)/&3"M/$&3"0."Ai/$S/.5
BREVE INTRODUÇÃO À NEUROANATOMIA
O cérebro é uma parte do sistema nervoso central que está dentro do
.'C85+F!W!.+-0+1%+!0+'!%'@1!0('%&1`!,+51!/&-516G'5+1!.&'&9'(51K!+!.&'J
ebelo e o tronco cerebral.
Os G'32/J4%2$/"5'%'9%)2/"32."&",&*./"E./12."0."Ai/$S/."<-,&(.5"P"5<%.'N"i"&"3-E$/V
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E$/*Ti/*A&3"^$@5\"4*32.;"&-0*12."$")&).a"$"&%'-(3"A.()/.%$3"0.3",.4*,$().3"Ê&/)*A-%&/,$()$"
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23
CAPÍTULO 4
PROBLEMAS NEUROLÓGICOS
).(5"?(./,&%*0&0$3"0.3"(uA%$.3"0&"S&3$"E/.0-+$,"E/.S%$,&3"0$"A.()/.%$"0.")}(-3",-3A-V
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0.3",$,S/.3;",.4*,$().3"$@)/&3"&(./,&*3"$")/$,./$3"Â.()[(-&"&'*)&12."*(4.%-()M/*&"0$"
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,M)*A&3;"*(A%-*(0."/$3E*/&12."*(4.%-()M/*&;"&O-3)$"0$"T/$X-q(A*&"A&/0[&A&;"A.()/.%$"0."3.(."$"
4*'[%*&"$"/$•"[email protected]"A.,."$('.%*/;"4.,*)&/;").33*/;"$X-*%[S/*."$"A.()/.%$"0.",.4*,$()."0.3".%<.35
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$"$,")&/$T&3"&E/$(0*0&3"*(A.(3A*$()$,$()$;")&*3"A.,."E*3A&/"A.,."/$3E.3)&"&"-,"3.E/."(."
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Hemisférios
Cerebelo
Tronco central
Medula espinhal
Posterior
Nervo sensorial do membro
Fig. 4-1A: O sistema nervoso é composto pelo cérebro, a medula espinhal e nervos que se
rami!cam para todas as partes do corpo.
24
Corte do cérebro a partir da Fig. 4-1A
Hemisférios
Gânglio basal
Tronco cerebral
Cerebelo
Medula espinhal
Fig.4-1B: O cérebro é composto por três partes: dois hemisférios cerebrais, o cerebelo e o
tronco cerebral.
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25
Outra característica importante da A-T é que os pacientes são diferentes
entre si na gravidade do acometimento neurológico. As crianças diferem umas das outras nos tipos de alterações neurológicas e na época
que as apresentam.
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48
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,$()."0.")}(-3"(.")/.(A.5
Fig 4-2: Pacientes A-T com idades aproximadas,
diferem na gravidade dos diferentes danos neurológicos.
26
deglutição
alimentação
olhos
1,0
postura/em pé
0,8
0,6
0,4
postura/sentado
marcha
peso/altura
neuropatias
postura/cabeça
movimentos
50
50
54
55
56
58
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são mais observados em crianças mais velhas.
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MOVIMENTO DOS OLHOS
! a&,>h5.i!&!g+,&'!,&1.'&;&'(-!(!j0&.2$5('5,(,&!,+1!-+;5-&8%+1!,+1!
olhos” como uma das características mais evidentes para o diagnóstico
da A-T.
" g$-/.%.'*3)&3"$3)-0&,"A-*0&0.3&,$()$".",.4*,$()."0.3".%<.3;"E.*3".3"A*/A-*).3"0.3"
)/q3"3*3)$,&3"E/*(A*E&*3"0$"A.()/.%$"32."S$,"A.(<$A*0.3"$"%.A&%*+&0.3"$,"0*4$/3.3"E.().3"
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T$/$()$3" E/.S%$,&3" 0." Ai/$S/.;" &(&%*V
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0&"&%,&C;",&3".3",&*3"E/.3&*A.3"($-V
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.%<.3"i"&"=O&($%&"0."Ai/$S/.Ca5
" m$O&" A&E[)-%." =P" .%<." $" &" 4*32.C"
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$"&"4*32.;"T.A."0$"%$()$3"$",.4*,$()."
3*,-%)r($.3" 0.3" .%<.3" E&/&" .%<&/" -,"
.SO$)."E/k@*,.5
Fig. 4-3: O controle dos movimentos
dos olhos é um processo complexo envolvendo diversas áreas do cérebro e o
órgão do equilíbrio no ouvido.
28
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29
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A combinação do tipo de problema especí=co dos movimentos sacádi.+1K! 1&>25-&8%+! ;512($! ! 0'&k2,5.(,+! &! dQl! 8+'-($! .(21(-! +1! j-+;5J
mentos de olhos peculiares” (algumas vezes chamados de apraxia oculomotora) encontrado com frequência na A-T.
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30
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A-T de falar, a fala é mais fácil de entender do que poderia ser esperado.
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“Estratégias alternativas” podem ser úteis para realizar as mesmas
atividades ou similares usando maneiras diferentes. Elas são úteis em
todos os estágios da doença.
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/$)$/"."X-$"T.*"%*0."$"&E/.4$*)&/"."E/.A$33.5"J,S./&"&"%$*)-/&"3$O&"E&/)$"*,E./)&()$"0."&E/$(V
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a h"A&/",&*3"0*T[A*%5"#./"$@$,E%.;"E$33.&3"(&)-/&%,$()$"&E/$(0$,"E./"0*T$/$()$3",i).0.3;"
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0*T$/$(1&3"E/.4&4$%,$()$"/$•"$)$,"&3"0*4$/3&3"<&S*%*0&0$3"X-$".3"$3)-0&()$3"&E/$(0$,"&"
$@E%./&/"E&/&"3$-",$%<./"E/.4$*).5"?E/$(0$/"&)/&4i3"0$"*(T./,&1Y$3"&-0*)*4&3"G".-4*/"&)$(V
)&,$()$"G"(2."i".",$*."0$"&E/$(0*+&0."E/$T$/*0."0$").0.",-(0.;",&3"E&/&"E./)&0./$3"0$"
?V>;"i"0$h"(*)*4&,$()$".-)/&"0*,$(32."0&3"T-(1Y$3"($-/.%k'*A&3"X-$"E$/,&($A$"E.33[4$%"
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! <&1%&!-+,+K!G!.+8;&85&8%&!%'&58('!2-(!9+(!(2,5)*+!-&1-+!&8^2(8%+!(!
leitura é possível, para desenvolver uma habilidade que sempre estará
presente enquanto outras áreas tornam-se mais difíceis.
32
Baltimore - EUA
AS FUNÇÕES DO SISTEMA IMUNOLÓGICO
"
"
"
P"3*3)$,&"*,-(.%k'*A.")$,"0-&3"'/&(0$3"T-(1Y$3\"
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0.$(1&3"*(T$AA*.3&3;"k/'2.3".-")$A*0.3")/&(3E%&()&0.3".-",$3,.")-,./$3"=$3)/&(<.3C"X-$"
A/$3A$,"(."(.33."E/kE/*."A./E.5"P"T-(A*.(&,$()."&0$X-&0."0."3*3)$,&"*,-(.%k'*A."T./V
($A$"E/.)$12."0&3"0.$(1&3"*(T$AA*.3&3;"i"/$3E.(3M4$%"E$%&"/$O$*12."0.3"k/'2.3")/&(3E%&(V
)&0.3"$"E/.4q"E/.)$12."A.()/&"."Ar(A$/5
Amigdala
Timo
Nódulos
linfáticos
Baço
Medula
óssea
Sangue
"
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,$()$"A.,-(3"$"3$,"'/&4*0&0$"$".-)/&3",$(.3"A.,-(3"$"
,&*3"3i/*&35"#./"$@$,E%.;"."*(0*4[0-."A.,-,")$,"0*4$/3.3"
=/$3T/*&0.3C"E./"&(."A&-3&0.3"E./"-,&"'/&(0$"4&/*$0&0$"0$"
4[/-3"/$3E*/&)k/*.35"P-)/.3"4[/-3"E.0$,"A&-3&/"*(T$A1Y$3"(."
T['&0." ^<$E&)*)$a" .-" *(T$A1Y$3" (." Ai/$S/." ^$(A$T&%*)$a;" X-$"
32.",-*).",&*3"'/&4$35"?%'-,&3"*(T$A1Y$3"S&A)$/*&(&3"32."
,&*3"A.,-(3"$"A.,"E.-A&"'/&4*0&0$;"A.,."&,*0&%*)$;".)*)$3"
$"*(T$A1Y$3"0$"E$%$"^*,E$)*'.a5"PA&3*.(&%,$()$;"&%'-,&3"*(V
T$A1Y$3"S&A)$/*&(&3"E.0$,"3$/",-*)."3i/*&3\"X-&(0."&T$)&,"
&",$,S/&(&"X-$"/$A.S/$"."Ai/$S/."^,$(*('$a;"E/.4.A&(0."
&",$(*('*)$;".-"&"X-$"$(4.%4$".".33."^.3)$.,*$%*)$a".-"&/)*V
A-%&1Y$3"Ê*."&/)/*)$a5
Fig.5-1: Partes importantes do sistema imunológico.
" v-&%X-$/"X-$"3$O&"&"*(T$A12.;"."3*3)$,&"*,-(.%k'*A."i"/$3E.(3M4$%"E$%&"0$T$3&"0."*(0*V
4[0-."A.()/&".3",*A/./'&(*3,.3"*(4&3./$35"P"3*3)$,&"*,-(.%k'*A."(./,&%"T./($A$"t"E$33.&"
&"E.33*S*%*0&0$"0$",&)&/".",*A/./'&(*3,."*(4&3./;"%*,*)&/"&"E/.E&'&12."0&"*(T$A12."$"E.33*V
S*%*)&/"&"/$A-E$/&12.5"K,"3*3)$,&"*,-(.%k'*A."&(./,&%"(2."i"A&E&+"0$",&)&/"A.,"$h"A*q(A*&"
.",*A/./'&(*3,.5"?"*(T$A12."E.0$/M"3$"$3E&%<&/"$"A&3."(2."3$O&")/&)&0&"E.0$/M"3$/"T&)&%5
Assim sendo, os pacientes com um sistema imunológico de=ciente frequentemente têm uma maior suscetibilidade às infecções.
" J,"&%'-(3"*(0*4[0-.3;"."0$T$*)."0."3*3)$,&"*,-(.%k'*A."i"E$X-$(."$"&3"*(T$A1Y$3".A./V
/$,"A.,"E.-A&"T/$X-q(A*&"$"3$,"'/&(0$3"A.(3$X-q(A*&35"J,".-)/.3;"A.,"-,",&*./"A.,V
33
CAPÍTULO 5
IMUNODEFICIÊNCIA
E/.,$)*,$()." 0." 3*3)$,&" *,-(.%k'*A.;" &3" *(T$A1Y$3" E.0$," 3$/" '/&4$3" .-" A&-3&0&3" E./"
,*A/./'&(*3,.3".E./)-(*3)&35"
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'$(.3"$3)/&(<.35"P3"A.,E.($()$3"0."3*3)$,&"*,-(.%k'*A."$3)2."E/$3$()$3"(."3&('-$;"(."
)*,.;"(.3"(k0-%.3"%*(TM)*A.3;"(&",$0-%&"0.3".33.3"$"(."S&1.5"R$"-,&"*(T$A12."3$"*(*A*&"$,"
-,"%-'&/"X-$")$,"E.-A.3"A.,E.($()$3"0$"0$T$3&;"A.,."&"E$%$;".A.//$"-,&"&)*4&12."0.3"
,$A&(*3,.3"0$"0$T$3&"%.A&%"X-$"/$A/-)&,"Ai%-%&3"E&/&"X-$"A<$'-$,"&."T.A."*(T$AA*.3."$"
A.()/.%$,"&"*(T$A12.5"J33&"i"&"/&+2."E$%&"X-&%".3"(k0-%.3"%*(TM)*A.3"0."E$3A.1."&-,$()&,"
0$")&,&(<."0-/&()$"-,&"*(T$A12."0$"'&/'&()&"$"."E-3"^T./,&0."E$%&"&12."E/.)$)./&"0&3"
Ai%-%&3"S/&(A&3"0."3&('-$a"3$"T./,&"$,"-,&"*(T$A12."A-)r($&5
COMPONENTES DO SISTEMA IMUNOLÓGICO NORMAL
" P"3*3)$,&"*,-(.%k'*A."i"A.,E.3)."E./"-,&"4&/*$0&0$"0$"0*T$/$()$3")*E.3"0$"Ai%-%&3"$"
E/.)$[(&35"B&0&"A.,E.($()$"/$&%*+&"-,&"T-(12."$3E$A[h"A&"4*3&(0."/$A.(<$A$/"$f.-"/$&'*/"
A.()/&"&()['$(.3"$3)/&(<.3"A.,.",*A/./'&(*3,.35"#&/&"&%'-(3"A.,E.($()$3;"."/$A.(<$A*V
,$()."0.3",*A/./'&(*3,.3"i"3-&"E/*(A*E&%"$"u(*A&"T-(12.5"P-)/.3"A.,E.($()$3"T-(A*.(&,"
E/*(A*E&%,$()$"E&/&"/$&'*/"A.()/&".3",*A/./'&(*3,.35"7M"&*(0&;".-)/.3"A.,E.($()$3"X-$"
&)-&,")&()."E&/&"/$A.(<$A$/"X-&()."E&/&"/$&'*/"A.()/&".3",*A/./'&(*3,.3"$".-)/&3"3-S3V
)r(A*&3"$3)/&(<&3"&."A./E.5
" B.,." ." S.," T-(A*.(&,$()." 0." 3*3)$,&" *,-(.%k'*A." i" A/[)*A." E&/&" &" 3.S/$4*4q(A*&;"
,-*)&3"T-(1Y$3"E.0$,"3$/"/$&%*+&0&3"E./"-,".-",&*3"A.,E.($()$"0$3)$"3*3)$,&5"J33&"/$V
0-(0r(A*&"&)-&"A.,."-,"T&)./"0$"E/.)$12."E.*3"3$"-,"0.3"A.,E.($()$3"0."3*3)$,&"$3)*4$/"
T&%)&(0.".-"T-(A*.(&(0.",&%;"-,".-)/."A.,E.($()$"E.0$"A.,E$(3&/"E$%.",$(.3"&%'-,&3"
0$"3-&3"T-(1Y$35
Os principais componentes de um sistema imunológico são:
! "! T586A.5%+1!g3
! "! T586A.5%+1!?3!
! "! 4(>A.5%+13
! "! D+-0$&-&8%+F
Fig. 5-2: Células do sistema imunológico originam-se na medula óssea e são distribuídas
pelo corpo.
34
1. V2(J<52.$/"p6"32."Ai%-%&3"S/&(A&3"0."3&('-$"A-O&"E/*(A*E&%"T-(12."i"E/.0-+*/"&()*A./V
E.3;"&%'-,&3"4$+$3"A<&,&0.3"0$"Ai%-%&3"H".-"*,-(.'%.S-%*(&35"R2."E/.0-+*0.3"(&",$0-%&"
k33$&" $" &Ek3" 0*T$/$(A*&12." ,*'/&," E&/&" .-)/.3" k/'2.3" %*(Tk*0$3;" A.,." %*(T.(.0.3" ^'r(V
'%*.3a;" S&1.;" *()$3)*(." $" A.//$()$" 3&('-[($&5" v-&(0." $3)$3" %*(TkA*).3" $()/&," $," A.()&)."
A.,"3-S3)r(A*&3"$3)/&(<&3"^&()['$(.3a;"3$")/&(3T./,&,"$,"E%&3,kA*).3"X-$"32."&3"Ai%-%&3"
E/.0-)./&3"0$"&()*A./E.35"J3)$3"$3)2."E/$3$()$3"$,").0."."./'&(*3,.\"3&('-$;"3$A/$1Y$3"
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" ?()*A./E.3"32."E/.)$[(&3"E/$3$()$3"(."3./."A.,"A&E&A*0&0$"0$"3$"%*'&/"&"&()['$(.3;"
($-)/&%*+&(0.V.35"J@*3)$,"&()*A./E.3"$3E$A[h"A.3"E&/&"A&0&"&()['$(."$3)/&(<."A.,""."X-&%"
)$,.3" A.()&).5"?33*," 3$(0.;" $@*3)$," &()*A./E.3" X-$" ($-)/&%*+&," ." 4[/-3" 0&" E.%*.,*$%*)$;"
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A.(<$A$/"E/&)*A&,$()$").0.",*A/./'&(*3,."E/$3$()$"$,"(.33.",$*."&,S*$()$5"v-&(0."."
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."T$).5"?()*A./E.3"0&"A%&33$"Z'?"32."E/.0-+*0.3"E/k@*,.3"t3",$,S/&(&3"0.",-A."$"$3)2."
E/$3$()$3"$,"3$A/$1Y$3"A.,."%M'/*,&3;"S*%$;"3&%*4&"$",-A."X-$"E/.)$'$,"&"4*&3"/$3E*/&V
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T./,&0.3"$,"/$3E.3)&"&"*(T$A1Y$3;"3$(0.",-*)."*,E./)&()$3"0-/&()$"."*([A*."0$"-,&"*(T$AV
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&*(0&"i"0$3A.(<$A*0&5
Os anticorpos nos protegem de infecções agindo de diferentes maneiras.
" #./"$@$,E%.;"&%'-(3",*A/./'&(*3,.3")q,"0$"3$"-(*/"t3"Ai%-%&3"0."A./E."&()$3"X-$"E.3V
3&,"A&-3&/"*(T$A1Y$3;",&3".3"&()*A./E.3"E.0$,"($-)/&%*+&/"$3)$3",*A/./'&(*3,.3"*()$/T$V
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&)*4&/"-,"'/-E."0$"E/.)$[(&3"A<&,&0&3"=A.,E%$,$().C;"X-$"0$3)/k*"0*/$)&,$()$"S&A)i/*&3"
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0$/*&,"A&-3&/"3i/*&3"*(T$A1Y$35
35
Linfócitos B
Anticorpos
Fig. 5-3: Os linfócitos B produzindo os anticorpos.
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As duas maneiras de aplicar a gamaglobulina nos pacientes são injetáveis, sendo injeção intramuscular ou intravenosa
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40
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41
CAPÍTULO 6
CUIDADOS GERAIS DURANTE AS INFECÇÕES
Baltimore - EUA
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O tratamento médico e os cuidados a qualquer indivíduo com de=ciência imunológica tem como objetivo conseguir:
! IF!#!'&,2)*+!,(!6'&^[email protected](!,(1!586&.)c&13
! \F!B'&;&85'!(1!.+-0$5.()c&13!
3. Evitar que uma infecção aguda se torne crônica.
P"E&A*$()$;"&"T&,[%*&"$".",i0*A."0$4$,")/&S&%<&/"$,"A.(O-()."E&/&"X-$".3".SO$)*4.3"3$O&,"
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DOENÇAS ESPECÍFICAS
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42
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43
seio frontal
seio etmoidal
seio esfenoidal
adenoide
tuba de eustáquio
seio maxilar
amigdala
língua
epiglote
laringe
(pregas vocais)
Fig. 6-1: Estruturas importantes na cabeça e na face.
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&"`n"0*&35"9&-"<M%*)."$"*(A<&1."^)-,$T&12.a"&."/$0./"0.3".%<.3"&."0$3E$/)&/"E.0$,"3$/"
*(0[A*.3"0$"3*(-3*)$5"g&",*(./*&"0.3"A&3.3"&"3*(-3*)$"i"-,&"*(T$A12."E/*,M/*&"$"(2."-,&"
A.,E%*A&12."0$"-,"/$3T/*&0.5"g$33$"A&3.;".3"3*().,&3"32.",&*3"3$4$/.3"A.,"T$S/$"&%)&;"
3$A/$12."(&3&%"4$/0$".-"&,&/$%&;"0./$3"(&"T&A$"$"&%'-,&3"4$+$3"0./"0$"A&S$1&5
]F" U%2-'6" U/*E$" i" -," )$/,." -3&0." E&/&" 0$3A/$4$/" -,&" *(T$A12." /$3E*/&)k/*&" &%)&,$()$"
A.()&'*.3&"A&-3&0&"E./""4[/-35"U/*E$3"E.0$,".A.//$/"$3E./&0*A&,$()$".-"E./"$E*0$,*&35"
P"E$/[.0."0$"*(A-S&12."*(A%-*".")$,E."$,"X-$"&"E$33.&"$3)*4$/"[email protected])&"&"-,"&'$()$"*(V
T$A)&0.;"&.")$,E."(."X-&%".3"3*().,&3"0&"0.$(1&"&E&/$A$,5"P3"3*().,&3"0&"'/*E$"*(A%-$,"
E*A.3"0$"T$S/$"&%)&;"A&%&T/*.3;"0./"0$"A&S$1&;"T/&X-$+&;"A&(3&1.;"3$A/$12."(&3&%"$"0./$3"
,-3A-%&/$35"?"'/*E$"E.0$"A&-3&/"0&(.3"(&3"4*&3"/$3E*/&)k/*&3"0."E-%,2.;"$"E.33*4$%,$()$"
&-,$()&/"&3"A<&(A$3"0$"*(T$A1Y$3"S&A)$/*&(&3"3$A-(0M/*&35"?"/$A-E$/&12."0$"-,"E&A*$()$"
A.,"?V>"E.0$"3$/",&*3"0$,./&0&"0$4*0."t"0*h"A-%0&0$"0$").33*/"$"$%*,*(&/"&3"3$A/$1Y$35"
J@*3)$,"4&A*(&3"X-$"32.",-*)."$h"A*$()$3"(&"E/$4$(12."0&3"'/*E$35"
Todos os pacientes com A-T, com exceção dos que são tratados com
5-28+>$+92$58(1!NYRYdVK!,&;&'5(-!1&!;(.58('!(!.(,(!+2%+8+F
" L$A.,$(0&V3$"X-$".3",$,S/.3"0&"A&3&"3$"4&A*($,"E&/&"/$0-+*/"&3"A<&(A$3"0$"$@E./"
."E&A*$()$"0$"?V>"&."4[/-3"0&"'/*E$5
^F" p%$(r02.'" )Z0&)6" H/.(X-*)$" &'-0&" i" -,&" *(•"&,&12." 0.3" S/}(X-*.35" 9-*)&3" 4$+$3"
&A.,E&(<&".-"3$'-$"&"*(T$A12."0.")/&)."/$3E*/&)k/*."3-E$/*./;"3$,$%<&()$"&"-,"/$3T/*&0."
A.,-,5"P3"3*().,&3"*(A%-$,"T$S/$"$").33$5"g."*([A*.;"&").33$"i"3$A&;",&3"'/&0-&%,$()$"
3$")./(&",&*3"E/.0-)*4&"Â.,"3$A/$12.a5"g.4&,$()$;"E&/&".3"E&A*$()$3"A.,"?V>;"&"/$A-E$V
/&12."E.0$/M"3$/",&*3"%$()&"0$4*0."t"/$0-+*0&"A&E&A*0&0$"0$").33*/"$"/$)*/&/"&"3$A/$12."0."
)/&)."/$3E*/&)k/*.5
44
_F" p%$(r02'5.)/2)6"H/.(X-*$A)&3*&"i".")$/,."-3&0."E&/&"0$3A/$4$/"&"0*%&)&12."0.3"S/}(V
X-*.3" X-$" %$4&" ." &/" &.3" E-%,Y$3" ^S/}(X-*.3" $" S/.(X-[.%.3a5" R$A/$1Y$3" (./,&%,$()$" %*V
S$/&0&3" E$%.3" E-%,Y$3" )$(0$," &" (2." •"-*/" (&3" E&33&'$(3" 0*%&)&0&3" T&A*%*)&(0." ." 0$3$(V
4.%4*,$()." 0$" *(T$A1Y$35" H/.(X-*$A)&3*&" E.0$" 3$" 0$3$(4.%4$/" &Ek3" T/$X-$()$3" *(T$A1Y$3"
E-%,.(&/$3".-".S3)/-12."0.3"S/}(X-*.35"?").33$"A&/&A)$/[3)*A&"E/.0-+"'/&(0$"X-&()*0&0$"
0$"$3A&//."'/.33."$"0$".0./"0$3&'/&0M4$%5"P"$3A&//.")&,Si,"E.0$"3$/"3&('-*(.%$().5
aF" D('03$(2)6"#($-,.(*&"i"-,&"*(T$A12."&'-0&"0.3"E-%,Y$3"E.0$(0."3$/"A&-3&0&"E./"
S&A)i/*&3;"4[/-3"$"T-('.35"P3"3*().,&3"32."A&%&T/*.3;"T$S/$"&%)&;").33$"$"0./$3"(."E$*)."&33.V
A*&0.3"A.,"&"/$3E*/&12."$").33$5"J,"&%'-(3"A&3.3;"E.0$".A.//$/"(M-3$&;"4},*)."$"0*&//i*&5"
A vacina para pneumococo pode reduzir o risco de pneumonia em pacientes com A-T.
EsF"U)/.%$'(.'%2.'" L&2)%%42)" t" 1j32.$M6"?" '&3)/.$()$/*)$" 3$" A&/&A)$/*+&" E$%." &-,$()." 0&"
T/$X-q(A*&"0&3"$4&A-&1Y$3"A.,"A.(3*3)q(A*&"%[X-*0&"$f.-"4},*).35"J33&3"*(T$A1Y$3"E.0$,"
3$/"A&-3&0&3"E./"4[/-3".-"S&A)i/*&3;"3$/"3*().,&"0$"&%$/'*&"&"&%'-,"&%*,$().".-"*().%$/r(A*&"
&"$%$5"?%*,$().3"A.()&,*(&0.3;",$0*A&,$().3"$"&(3*$0&0$")&,Si,"E.0$,"A&-3&/"0*&//i*&5
" ?"'&3)/.$()$/*)$"E.0$"3$/"%$4$".-"'/&4$5"?"A%&33*h"A&12."0$E$(0$"0&"T/$X-q(A*&"0&3"$4&V
A-&1Y$3;"0."3$-"4.%-,$;"0&"3-&"A.(3*3)q(A*&~"0&"T/$X-q(A*&"$"0."4.%-,$"0."4},*).;"&%i,"
0&"E/$3$(1&".-"&-3q(A*&"0&"T$S/$"$"0&"X-&()*0&0$"0$"%[X-*0.3"X-$"&"A/*&(1&"E.0$").,&/"4*&"
./&%"$"/$)$/"(."./'&(*3,.5
" ?"*,E./)r(A*&"0&"'&3)/.$()$/*)$"$3)M"/$%&A*.(&0&"t"X-&()*0&0$"0$"%[X-*0.3"E$/0*0.3"$"t"
'/&4*0&0$"0&"0$3*0/&)&12."0$3$(4.%4*0&5"g.3"S$Sq3"$"(&3"A/*&(1&3",$(./$3"."4.%-,$"0$"
%[X-*0.3"i",&*./"$"&3"/$3$/4&3"(-)/*A*.(&*3"32.",$(./$3;"$"E./"*33."."/*3A."0$"0$3*0/&)&12."
i",&*./"3$"A.,E&/&0."A.,"A/*&(1&3",&*./$3".-"&0-%).35"
Os sintomas de desidratação são:
! "! B&',(!,(!&$(1%5.5,(,&!,(!0&$&!N9(5f+!%2'>+'V3
! "! g+.(K!$X95+1!&!$78>2(!1&.+1!&!'&11&.(,+13
! "! a&,&3
! "! l&,2)*+!,(!2'58(!N-5.)*+V3
! "! :+$&5'(1!N6+8%(8&$(1V!(628,(,(1!8+1!9&9@13
! "! Q$/+1!628,+13
! "! :2,(8)(!,&!.+-0+'%(-&8%+!58,+!,(!(>5%()*+!m!6'(^2&H(!&f%'&-(F
R$"&"A/*&(1&")*4$/"0*&//i*&"A.,"4},*).3"E./",&*3"0$"-,"0*&;"E/.A-/$"3$-",i0*A.5
CUIDADOS GERAIS DE INDIVÍDUOS COM DOENÇAS RESPIRATÓRIAS
O tratamento de infecções respiratórias está direcionado ao alívio dos
sintomas e à prevenção de complicações.
45
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A.,E%*A&1Y$35"J@E$A)./&()$3"E.0$,"3$/"E/$3A/*).3"E&/&"•"-*0*h"A&/"&3"3$A/$1Y$3"$"0$3A.(V
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.T$/$A$/"-,&"0*$)&"A&%k/*A&"$"E/.)i*A&"E&/&"3-S3)*)-*/"&3"E/.)$[(&3"E$/0*0&3"0-/&()$"&"T&3$"
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E&E$%"3-O.3"0$4$/2."3$/"*,$0*&)&,$()$"O.'&0.3"T./&5":&4&/"&3",2.3"T/$X-$()$,$()$"&"hm
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FISIOTERAPIA RESPIRATÓRIA
! <'&8(>&-! 0+1%2'($! +2! 9'e8^25.(! ,(! .(5f(! %+'Xf5.(! N=sioterapia respiratória) pode ser prescrita pelo médico para ajudar a limpar as
secreções das vias aéreas do pulmão.
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J33&"T./,&"0$"h"3*.)$/&E*&"/$3E*/&)k/*&"E.0$"3$/"E/$3A/*)&"E&/&"&"E/$4$(12."$f.-")/&)&,$()."
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46
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MANOBRAS QUE AJUDAM A REMOVER AS SECREÇÕES
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47
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#fAPBPTR"U>CBAR""DBCB""A?PA@hPfTR"#Tb"PT>?kBR"UBR7CTA?7>R;
TINAIS
Os cuidados gerais da gastroenterite concentram-se na reposição dos
líquidos do corpo e na prevenção da desidratação.
" v-&(0."&"0*&//i*&"T./"%$4$;"-,&",-0&(1&"(&"&%*,$()&12."$"&-,$()."0&"*('$3)2."0$"
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).,&/",-*)."%[X-*0."^3./."A&3$*/.;"A<M;"M'-&"0$"A.A.;"3-A.3;"'&)./&0$a5"?%*,$().3"'$%&0.3"
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S-$,"E&/&"A.()/.%&/"&"0*&//i*&;"A.,.;"E./"$@$,E%.;").//&0&3;"S.%&A<&"0$"M'-&"$"3&%~"3.E&3"
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$"0."0.$()$"3$O&,",&()*0.3"$"%&4&0.3"3$E&/&0&,$()$"0&3"/.-E&3"$"-)$(3[%*.3"0&"T&,[%*&5"
P3"S&(<$*/.3""0$4$,"3$/"0$3*(T$)&0.3"3$,E/$"X-$"E.33[4$%5
48
Sharon A. McGrath-Morrow – MD
Johns Hopkins Hospital
Baltimore - EUA
INTRODUÇÃO
" #&A*$()$3"A.,"?V>")$,",&*./"E/.S&S*%*0&0$"0$"0$3$(4.%4$/"0.$(1&3"/$3E*/&)k/*&35"P3"
E/*(A*E&*3"3*().,&3"32.\").33$"T/$X-$()$;"/$3E*/&12."/-*0.3&;"A.('$3)2."(&3&%;"/$3E*/&12."
/ME*0&"$"3-E$/h"A*&%"$,"/$E.-3.".-"0-/&()$"&3"&)*4*0&0$35
Nariz
Laringe
Traquéia
Pulmões
Pleura
Lobo superior
Brônquios
Alvéolos
Bronquiolos
Lobo médio
Lobo inferior
Fig. 7-1: Sistema respiratório.
CAUSAS DAS DOENÇAS DO PULMÃO
EF" A(J'5*u'/"'"230($&'Q"52\(52)6"Z(0*4[0-.3"A.,"-,"3*3)$,&"*,-(.%k'*A."0$S*%*)&0."E.V
0$,")$/"3*(-3*)$"$"*(T$A1Y$3"(."E-%,2."A.,",&*./"T/$X-q(A*&"$f.-"A.,",&*3"'/&4*0&0$"0."
X-$"&",i0*&"0&3"E$33.&35"J3)&3"*(T$A1Y$3"E.0$,".A.//$/"(.",$3,."*(0*4[0-."$"&,S&3"
E.0$,"A&-3&/"&").33$5"P3"3*().,&3"0&"3*(-3*)$"A/}(*A&"E.0$,"3$/\"3$A/$12."(&3&%"*(A.%./;"
'.)$O&,$()."Ek3V(&3&%;").33$"$"A.('$3)2."(&3&%5"H/.(X-*)$3"$"E($-,.(*&3"32."*(T$A1Y$3"
X-$"$(4.%4$,".3"S/}(X-*.3"$"E-%,Y$35"H/.(X-*)$3"$"E($-,.(*&3"0$"/$E$)*12."E.0$,"A&-V
3&/"%$3Y$3"E$/,&($()$3"(&3"4*&3"&i/$&3"/$3-%)&(0."(-,&"A.(0*12."A<&,&0&"S/.(X-*$A)&V
sia.
! B&11+(1!.+-!9'+8^25&.%(15(!0+,&-!,&1&8;+$;&'!586&.)c&1!9(.%&'5(8(1!
crônicas das vias aéreas e podem apresentar uma perda acelerada da
função pulmonar.
49
CAPÍTULO 7
DOENÇAS DO PULMÃO
Fig. 7-2: Brônquio normal e brônquio com bronquiectasia
HF" I%)r0'o)"&$/"3m/508$/"%'/-2%).<%2$/6"?"?V>"A&-3&"T/&X-$+&"0.3",u3A-%.3"/$3E*/&)kV
/*.3"."X-$"E/.4.A&"-,&").33$"T/&A&;"*($h"A*$()$"$"/$3E*/&12."3-E$/h"A*&%5"Z3)."E.0$"0*h"A-%)&/"
-,&"/$3E*/&12.",&*3"E/.T-(0&"$"/$,.12."0&"3$A/$12."0&3"4*&3"&i/$&3;"$3E$A*&%,$()$"0-V
/&()$"-,&"0.$(1&"/$3E*/&)k/*&"A.,."."/$3T/*&0.".-"&"E($-,.(*&5"?"0*h"A-%0&0$"$,"/$,.4$/"
&3"3$A/$1Y$3"0&3"4*&3"&i/$&3"E.0$".A.//$/"$,"X-&%X-$/"*0&0$;",&3"i",&*3"E/$3$()$"0$E.*3"
0.3"0$+"&(.35
OF" D%$98'3)/" &'" &'Z80.2*+$" '" -('03$(2)" -$%" )/-2%)*+$6"?" &3E*/&12." .A.//$" X-&(0."
&" A.,*0&;" %[X-*0." .-" 3&%*4&" $()/&" E$%&3" 4*&3" &i/$&3" &." *(4i3" 0$" 0$3A$/" E$%." $3}T&'.5"?"
&3E*/&12."E.0$"A&-3&/"%$32."(."E-%,2."$"E($-,.(*&3"0$"/$E$)*12.5"|"A.,-,"X-$".3"E&V
A*$()$3"A.,"?V>"0$3$(4.%4&,"E/.S%$,&3"0$"0$'%-)*12.;"A.%.A&(0.V.3"$,"/*3A."0$"A.()/&*/"
E($-,.(*&"E./"&3E*/&12.5"?3E*/&12."E.0$"3$/"A/}(*A&".-"*()$/,*)$()$"$"E.0$"E*./&/"0-/&()$"
&3"*(T$A1Y$3"0.")/&)."/$3E*/&)k/*."$"$,"E&A*$()$3"X-$")q,"/$•"-@."'&3)/.$3.TM'*A."^/$•"-@."
MA*0.a5"
! #105'()*+!.(21(!%+11&!8(!-(5+'5(!,(1!0&11+(13!&8%'&%(8%+K!+1!0(.5&8%&1!
com A-T frequentemente não tossem quando aspiram, di=cultando o di(>8A1%5.+!(%'(;G1!,+!&f(-&!.$785.+!,&1%(!.+8,5)*+F!Nd&'!+!.(07%2$+!j#$5J
mentação e deglutição”).
SINTOMAS RESPIRATÓRIOS
EF" P$'(*)"-083$()%"2(.'%/.252)8"LPDAM6"K,&"E$X-$(&"E&/)$"0.3"E&A*$()$3"A.,"?V>"0$V
3$(4.%4$"0.$(1&"E-%,.(&/"*()$/3)*A*&%"^6#Za5"?%'-(3"0.3"3*().,&3"32."&"T&%)&"0$"&/"$").33$"
3$A&;"(2."&33.A*&0&"A.,"-,&"*(T$A12."E-%,.(&/".-"3*(-3*)$5"B.,"."E&33&/"0.")$,E.;".3"
E-%,Y$3"0.3"E&A*$()$3"A.,"6#Z"E.0$,"0$3$(4.%4$/"A*A&)/*+&12."0.3")$A*0.3;")./(&(0."0*T[V
A*%"&")/.A&"0$".@*'q(*."(.3"E-%,Y$35"?3"A&-3&3"0&"6#Z"32."0$3A.(<$A*0&3;",&3"E.0$,"$3V
)&/"/$%&A*.(&0&3"t"0*3T-(12."*,-(.%k'*A&5"K,&"E$3X-*3&"0$,.(3)/.-"X-$"A./)*Ak*0$3"./&*3"
E.0$,"3$/"u)$*3"E&/&"E&A*$()$3"A.,"?V>"$"6#Z5
50
HF" T0.%$/"-%$98'3)/"%'/-2%).<%2$/6">$/"?V>"(2."*,E$0$"X-$"A/*&(1&3"$"&0-%).3")$(<&,"
.-)/.3"E/.S%$,&3"/$3E*/&)k/*.3;"(2."/$%&A*.(&0.3"&"$%&5"?"&3,&"i"A.,-,"(&"E.E-%&12."$,"
'$/&%"$".3"3*().,&3"*(A%-$,").33$"*()$/,*)$()$".-"A/}(*A&"$"/$3E*/&12.".T$'&()$"$"/-*0.3&5"
?3,&" i" 3$,E/$" )/&)&0&" A.," *(&%&12." 0$" A./)*Ak*0$3" $" S/.(A.0*%&)&0./$3" X-$" &O-0&," &"
&S/*/".3"S/}(X-*.3"$"/$,.4$/".",-A."0.3"E-%,Y$35"P3"3*().,&3"0&"&3,&"32."E/.4.A&0.3"
E./"T&)./$3"&,S*$()&*3;")&*3"A.,."T-,&1&"0$"A*'&//.;"E.%-*12."0."&/;",-0&(1&3"S/-3A&3"0."
)$,E.;"&-,$()."0$"$3T./1."$"*(T$A1Y$3"0.")/&)."/$3E*/&)k/*.5"?"A.,S*(&12."0$"?V>"$"&3,&"
E.0$"&'/&4&/".3"E/.S%$,&3"0-/&()$"&3"*(T$A1Y$3"/$3E*/&)k/*&35
CONTROLE DA FUNÇÃO PULMONAR
Todos os pacientes com A-T devem ter os pulmões avaliados mesmo
que não apresentem sintomas. A espirometria é a melhor forma de avaliar a função pulmonar. Entretanto, alguns ajustes nas técnicas devem
ser feitos para que os resultados dos pacientes com A-T sejam =dedignos.
" ?" $3E*/.,$)/*&" i" -,&" ,$0*12." 0&" T-(12." E-%,.(&/" X-$" i" 3*,E%$3" $" (2." *(4&3*4&;" $"
/$X-$/"&E$(&3"X-$"&"E$33.&"*(3E*/$"$"$@E*/$"E./"-,"S.A&%5"#.0$"3$/"T$*)."(&",&*./*&"0.3"
E&A*$()$3" A.,"?V>" X-&(0." E$X-$(.3" &O-3)$3" 32." T$*).3" (&" )iA(*A&;" )&*3" A.,." $3)&S*%*+&/"
&"A&S$1&"$",&()$/"-,"S.,"4$0&,$()."$,")./(."0."S.A&%5"6$4$"3$/"T$*)."&(-&%,$()$"$,"
E&A*$()$3"A.,"?V>"X-$")$(<&,"*0&0$"3-h"A*$()$"E&/&"A.%&S./&/5
" P")$3)$"&(-&%"E.0$"&O-0&/"&"*0$()*h"A&/"&X-$%$3"E&A*$()$3"A.,"T-(12."E-%,.(&/"*($h"V
A*$()$"$"&X-$%$3"X-$"E.0$,"&E/$3$()&/"0$A%[(*."/ME*0."0$3)&"T-(12."A.,"&"*0&0$5"D-()."
A.,"&"$3E*/.,$)/*&;")&,Si,"E.0$,"3$/"T$*)&3",$0*1Y$3"0&"E/$332."*(3E*/&)k/*&"$"$@E*/&)kV
/*&",M@*,&3"^#Z,M@"$"#J,M@a"$"0."E*A."0$"•"-@."$@E*/&)k/*.;"A.,.",&/A&0./$3"0&"T./1&"0.3"
,u3A-%.3"/$3E*/&)k/*.35"v-&(0."*(0*A&0.3;"&".@*,$)/*&"0$"E-%3.;"&"'&3.,$)/*&"&/)$/*&%;"$"&"
E.%*33.(.'/&h"&"(.)-/(&"^$3)-0."0."3.(.a"32.")&,Si,")$3)$3"4&%*.3.3"0&"T-(12."E-%,.(&/5
D>RefARBR"PABU?nR7A#BR"DBCB"AP>?7AIA#BC">"#BCB#7>CAiBC"B"PT;
ENÇA PULMONAR
EF" >/-2%$3'.%2)\"?4&%*&12."0.3"4.%-,$3"E-%,.(&/$3;"E$%&"$3E*/.,$)/*&;"-)*%*+&(0.".",i).V
0."0$"0*%-*12."0$"<i%*."E.0$,"3$/"A.'*)&0&3"$,"E&A*$()$3"A.,"-,&"S&*@&"A&E&A*0&0$"4*)&%"
T./1&0&"^BmQa;".-"3$O&;"-,&",$(./"A&E&A*0&0$"E&/&"*(•"&/"$"0$3*(3-•"&/".3"E-%,Y$35"K,&"
S&*@&"BmQ"E.0$"3-'$/*/"/$3$/4&"E-%,.(&/"0*,*(-[0&"$"-,&"0.$(1&"E-%,.(&/"3-SO&A$()$5"
P",i).0."0$"0*%-*12."0$"<i%*."i"/$&%*+&0."T&A*%,$()$"(.3"E&A*$()$3"X-$"32."-3-M/*.3"0$"
A&0$*/&"0$"/.0&35"P")$3)$")&,Si,"/$X-$/",[(*,&"A..E$/&12."0."E&/)*A*E&()$5"Z(T$%*+,$()$;"
&" *(3)&%&12." E&/&" ." )$3)$" (2." i" &A$33[4$%" $," ,-*).3" %&S./&)k/*.3" 0$" T-(12." E-%,.(&/5" |"
3-S3)*)-[0."E$%&"E%$)*3,.'/&h"&;"-,&")iA(*A&"X-$"/$X-$/"X-$"."*(0*4[0-."h"X-$"3$()&0."0$(V
)/."0$"-,&"A&*@&"$"/$&%*+$"-,&",&(.S/&"/$3E*/&)k/*&"X-$"E.0$"3$/"0*T[A*%"E&/&"E&A*$()$"A.,"
?V>5"Z(0*4[0-.3"A.,"S&*@&"BmQ"0$4$,"3$/"&4&%*&0.3"E./"-,"E($-,.%.'*3)&5
HF" D'/r02/)/"%)&2$8<Z25)/\"#.0$,"3$/"*(0*A&0&3"E&/&"E&A*$()$3"A.,"?V>"X-$")q,"3*().V
,&3"/$3E*/&)k/*.3"A/}(*A.3".-"X-$*@&3"/$3E*/&)k/*&3"X-$"3$",&()q,"&E$3&/"0.")/&)&,$()."0$"
-,"E/.A$33."&'-0.5"P"/&*.Vs"^Lsa"0.")k/&@"i"u)*%"E&/&"*0$()*h"A&/"E($-,.(*&35"J()/$)&().;"
-,&" ).,.'/&h"&" A.,E-)&0./*+&0&" ^>Ba" E.0$" 3$/" ,&*3" 3$(3[4$%" E&/&" *0$()*h"A&/" E$X-$(&3"
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51
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TRATAMENTO
EF" @)52()/
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Todos os pacientes com A-T devem ter seu sistema imunológico avaliado periodicamente.
HF" B(.292<.25$/\"#&A*$()$3"A.,"?V>")q,"&%)&"E/$0*3E.3*12."&"A.()/&*/"*(T$A1Y$3"S&A)$/*&V
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0.3"&Ek3"-,&"*(T$A12."4*/&%"$"A.,"0.$(1&"E-%,.(&/"A/}(*A&"3-SO&A$()$5"?%'-,&3"4$+$3"
.3"&()*S*k)*A.3"*()/&4$(.3.3"32."($A$33M/*.3"(.3"*(0*4[0-.3"A.,"*(T$A1Y$3"S&A)$/*&(&3"X-$"
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$3E$A*&%*3)&"0$4$"3$/"A.(3-%)&0."&()$3"0$"*(*A*&/"."-3."0$"&()*S*k)*A.3"0$",&(-)$(12.5
" P3"3$*.3"0&"T&A$"*(T$A)&0.3"E.0$,",&()$/"-,&"*(T$A12."A/}(*A&"A.,"E*./&"0&").33$"$f
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52
$@&'$/&0.3"$;"E./)&().;"E.-A&3"4$+$3"i"0*&'(.3)*A&0&"(.3"E&A*$()$3"A.,"?V>5"6$4$V3$"0&/"
&)$(12."&"$3)$"0*&'(k3)*A."$")/&)&/"0$3)&3"*(T$A1Y$35
PREVENÇÃO
EF" v2Z2'('"9%j(r025)6"#&A*$()$3"A.,"/$3E*/&12."3-E$/h"A*&%"$").33$"T/&A&"E.0$,"3$"S$V
($h"A*&/"0."-3."0$"$3)/&)i'*&3"E&/&"<*'*$($"S/}(X-*A&"^4*S/&0./$3;"4$()*%&12.".3A*%&)k/*&"0$"
&%)&"T/$X-q(A*&"0&"E&/$0$")./MA*A&"$"$X-*E&,$()."E&/&"&").33$"*(0-+*0&;"A.,."."R<&F$/a;"
h"3*.)$/&E*&"/$3E*/&)k/*&;"*(&%&12."A.,"A./)*Ak*0$3"$"S/.(A.0*%&)&0./$35"?%'-,&3"4$+$3"$3)&3"
*()$/4$(1Y$3"32."($A$33M/*&3"&E$(&3"0-/&()$".3"E/.A$33.3"&'-0.3;"$,S./&".-)/.3"*(0*4[V
0-.3"3$"S$($h"A*$,"0$3)&3"*()$/4$(1Y$3"(."A.)*0*&(.5
HF" V232.)%")")/-2%)*+$6"#&A*$()$3"A.,"?V>"X-$")q,"&"0$'%-)*12."E/$O-0*A&0&"0$4$,").,&/"
,$0*0&3" E&/&" %*,*)&/" &" &3E*/&12." &" h"," 0$" $4*)&/" A.,E%*A&1Y$3" /$3E*/&)k/*&3;" &33*," A.,."
,&()$/"-,&"0*$)&"&0$X-&0&"/*A&"$,"(-)/*$()$35"^m$/"A&E[)-%."=?%*,$()&12."$"0$'%-)*12.Ca
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,u3A-%.3" /$3E*/&)k/*.3" $" &" 0*h"A-%0&0$" $," %*0&/" A.," $3)&3" *(T$A1Y$35" 9$%<./&/" &" 0*$)&" $"
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$@&A$/S&/"&"0.$(1&"E-%,.(&/"(&3"E$33.&3"A.,".-"3$,"?V>5">.0.3"3$"S$($h"A*&,"X-&(0."
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53
CAPÍTULO 8
ALIMENTAÇÃO E DEGLUTIÇÃO
Maureen A. Lefton-Greif - PHD, CCC/SLP
Johns Hopkins Children’s Center
Baltimore – EUA
INTRODUÇÃO
" ?%*,$()&/V3$"i"-,&"&)*4*0&0$",-%)*0*,$(3*.(&%5"L$X-$/"-,&"A../0$(&12."'$/&%"$"0$)&V
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,.0."&"E$/,*)*/"t"E$33.&")/&(3T$/*/"&"A.,*0&"0&",$3&"E&/&"&"S.A&"$"0$",&3)*'&/"&"A.,*0&"
."3-h"A*$()$"E&/&"X-$"E.33&"3$/"$('.%*0&5"
" ?%*,$()&/V3$" $" &" <&S*%*0&0$" 0$" $('.%*/" 32." ,&*3" *,E./)&()$3" 0." X-$" ." &)." 0$" A.,$/"
,$A&(*A&,$()$5"?"/$T$*12."i"-,"&A.()$A*,$()."3.A*&%"X-$")$,"E./".SO$)*4."&"*()$*/&12."T&V
,*%*&/;"0$30$"&"/.)*(&"0*M/*&"0$"-,"O&()&/"&"-,"$4$()."3.A*&%5"J33$"A&E[)-%.")$,"E./".SO$)*4."
0$3A/$4$/"."&)."0$"$('.%*/"^0$'%-)*/a"$"3$-3"E/.S%$,&35
AS FUNÇÕES DA ALIMENTAÇÃO E DA DEGLUTIÇÃO
" ?"&%*,$()&12."$"&"0$'%-)*12.")q,"0.*3".SO$)*4.35"P"E/*,$*/."i"3-E/*/"."&0-%)."$"&"A/*&(1&"
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0.5"P"3$'-(0."i")/&(3E./)&/"."&%*,$().;"."%[X-*0."$"&"3&%*4&"0&"S.A&"&."$3)},&'.",&()$(0."
&3"4*&3"&i/$&3"E/.)$'*0&35
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A<$'&,"&"$('.%*/"&)i"ecnn"4$+$3"E./"0*&;"3$(0."X-$".",.4*,$()."0$"0$'%-)*12.".A.//$",&*3"
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0."A./E.")&,Si,"i"*,E./)&()$\"X-&(0."$3)&,.3"3$()&0.3".-"$,"Ei"0$'%-)*,.3",&*3"4$+$3"
0."X-$"X-&(0."0$*)&0.35
O ato de engolir (deglutir) é composto por três fases:
! "! Q'($!N9+.(V3
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A J)/'"$%)8"i"."*([A*."0."E/.A$33."0*'$3)*4.5"|"&"T&3$"$,"X-$".A.//$"&"E/$E&/&12."0."
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A.,."&",&(0[S-%&;",&@*%&;"&33.&%<."0&"%[('-&;"%[('-&;"%MS*.3;"0$()$3;"S.A<$A<&"$"E&%&)."
Âi-"0&"S.A&a;"&%i,"0$"$3E&1.3"A<&,&0.3"4$3)[S-%.3"^$3E&1."$()/$"&",&@*%&"$",&(0[S-%&"
$".3",u3A-%.3"0.3"%MS*.3"$"."$3E&1."$()/$",&@*%&"$",&(0[S-%&"$"&3"S.A<$A<&3a5"6$()/$"$3V
)&3;"&"%[('-&")$,"-,"E&E$%",-*)."*,E./)&()$5"?%i,"0$"&O-0&/"(&"T./,&12."0."S.%."&%*,$()&/"
$%&"O-()&"$"&A.,.0&"-,&"X-&()*0&0$"A.//$)&"0$"&%*,$()."E&/&""E/.E-%3*.(&V%.;"A.,"."&-@[%*."
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)."%&S*&%"3$"T&+"($A$33M/*."E&/&"X-$"(2.".A.//&"$3A.&,$()."0."&%*,$().".-"%[X-*0."E&/&"T./&"
0&"S.A&5"L$3-,*(0.;"&3"T-(1Y$3"0&"T&3$"./&%"32."E/$E&/&/"&"A.,*0&"E&/&"3$/"$('.%*0&"$"
$()/$'MV%&"E/.()&"E&/&"&"E&/)$"E.3)$/*./"0&"S.A&5"
54
" P3"%[X-*0.3"$"&%'-(3"&%*,$().3"OM"$3)2."E/.().3"E&/&"3$/$,"$('.%*0.3"(&"$()/&0&"0&"
S.A&;")&*3"A.,."E-0*(3"$"3./4$)$3"$"32."A<&,&0.3"0$"S.%."&%*,$()&/5"Q/-)&3"T/$3A&3;"4$V
'$)&*3;"A&/($3;"3&(0-[A<$3"$)A;"E/$A*3&,"3$/",&3)*'&0.3"$",*3)-/&0.3"t"3&%*4&;"E&/&"3$/$,"
)/&(3T./,&0.3"$,"S.%."&%*,$()&/5
Pálato mole
Fase
Oral
Língua
Fase
Faríngea
Hióide
Epiglote
Laringe
Traquéia
Esôfago
Para os
Pulmões
Fase
Esofágica
Para o
Estômago
Fig. 8-1: As estruturas associadas
com as três fases da deglutição.
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).3"E$/*3)M%)*A.35
TR"DCTpV>bBR"?B"P>UVf7AkST6"PARIBUAB
Alterações na deglutição podem di=cultar a ingestão de líquidos e alimentos em quantidades su=cientes para manter-se sadio, de modo a
tornar as refeições um momento não prazeroso, causando também problemas respiratórios.
" 6*3T&'*&"i".")$/,."-3&0."E&/&"0$3A/$4$/".3"E/.S%$,&3"(&"0$'%-)*12."X-$"&T$)&,"-,&"
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55
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OF" D%$98'3)/"&)"J)/'"'/$JdZ25)
!" ?%*,$().3".-"%[X-*0.3"/$)./(&(0."E&/&"."$3}T&'.;"4*(0.3"0."$3)},&'."^/$•"[email protected]
DIFICULDADES COMUNS NA ALIMENTAÇÃO E DEGLUTIÇÃO
" #/.S%$,&3"$,"&%*,$()&/V3$"$"$('.%*/")./(&,V3$"A.,-(3"(.3"E&A*$()$3"A.,"?V>"0-/&()$"&"
&0.%$3Aq(A*&5"#/.S%$,&3"0-/&()$"&3"/$T$*1Y$3"E.0$,"3$/"A&-3&0.3"E./"T&)./$3"/$%&A*.(&0.3"
A.,"&",$Ar(*A&"0$"&%*,$()&/V3$"$f.-"E/.S%$,&3"X-$"&T$)&,"-,&".-",&*3"T&3$3"0&"0$'%-)*V
12.5"#./"$@$,E%.;"&%'-,&3"E$33.&3"0$,./&,",-*).")$,E."(&"/$T$*12.;"E.*3")./(&V3$"0*T[A*%"
)/&(3T$/*/"&"A.,*0&"0."E/&)."E&/&"&"S.A&5"P-)/.3"E.0$,"0$,./&/",&*3"(&3"/$T$*1Y$3;"0$4*0."
t"A/$3A$()$"0*h"A-%0&0$"$,",&3)*'&/"$f.-"$('.%*/5"?33*,;".")$,E."$()/$"-,&"'&/T&0&"$".-)/&"
E&33&" &" 3$/" ,-*)." '/&(0$5" Z(0$E$(0$()$,$()$" 0&3" A&-3&3;" /$T$*1Y$3" ,&*3" %.('&3" E.0$,"
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" ?0.%$3A$()$3"A.,"?V>;"&%i,"0$"&E/$3$()&/"0*h"A-%0&0$3"(&"T&3$"./&%"E/.E/*&,$()$"0*)&;"
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3$(1&"0$"E/.S%$,&3;"32."A.(3*0$/&0.3"/$•"[email protected]"(./,&*3"X-$".A.//$,"$,").0&3"&3"E$33.&3"
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Em muitos pacientes com A-T, a falta do re_exo da tosse é um problema
sério, pois di=culta a limpeza dos pulmões e aumenta o risco de problemas como a pneumonia.
" ?%i," 0*33.;" &" &3E*/&12." 3*%$(A*.3&" $3A.(0$" ." T&)." 0$" X-$" $@*3)&" -," E/.S%$,&" E&/&"
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SINAIS DE PROBLEMAS NA DEGLUTIÇÃO
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ratórios.
56
MANEIRAS DE COMPENSAR AS DIFICULDADES NA DEGLUTIÇÃO
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baixo da mão.
Fig. 8-3: Se o corpo estranho
não sair com a manobra descrita na !g. 8.2, vire a criança
de barriga para cima, ponha
dois dedos no meio do esterno (osso que se encontra no
centro do tórax) e pressione
5 vezes.
59
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Fig. 8-4: Coloque o punho fechado abaixo do tórax da pessoa; agarre esse punho com a
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60
Michael Kastan - M.D., Ph.D.,
Comprehensive Cancer Center Director
St. Jude Children’s Research Hospital
Memphis - EUA
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61
CAPÍTULO 9
CÂNCER E O RISCO DA EXPOSIÇÃO AOS RAIOS X
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A/*&(1&"X-$S/.-"."S/&1.;"."S$($T[A*."0.3"/&*.3Vs"3-E$/&"."/*3A.5""J@&,$3".0.().%k'*A.3"0$"
/.)*(&"A.,"/&*.3Vs"0$4$,"3$/"$4*)&0.3;",&3;"-,"$4$()-&%"$@&,$"E&/&"4$/*h"A&/"&"./*'$,"0$"
-,&"0./"0$"0$()$3"i"&A$*)M4$%5
Orientação para uso dos raios-X ou tomogra=as computadorizadas nos
diagnósticos em pacientes com A-T
! IF! a&-0'&!^2&!0+117;&$!&;5%&!'(5+1JpF
! "! <&;&J1&!&;5%('!(;($5()c&1!+,+8%+$A>5.(1!,&!'+%58(!.+-!'(5+1Jp3
! "! #$>2-(1!;&H&1K!+2%'+1!&f(-&1!%(51!.+-+!'&11+8C8.5(!-(>8G%5.(!+2
ultra-sonogra=a, podem dar as informações necessárias, sem a utilização dos raios-X.
2. O uso dos raios-x é indicado quando o resultado torna-se necessário
para uma decisão médica.
! "! a&!(!.'5(8)(!%5;&'!6&9'&!&!%+115'K!&!+!-G,5.+!+2;5'!1+81!.('(.%&'71%5.+1
de pneumonia, antibióticos poderão ser receitados sem ter que reali! ! H('!2-!'(5+Jp!,+!%A'(f3
! "! D(1+!+1!158%+-(1!0&'151%(-K!+!'(5+Jp!,+!%A'(f!0+,&'X!1&'!P%5$F
" #&A*$()$3"A.,"?V>"32.",&*3"3$(3[4$*3"t"%-+"0."3.%"^/&*.3"Kma;",&3"$33&"3$(3*S*%*0&0$"
(2."3*'(*h"A&"."&-,$()."."/*3A."0$"Ar(A$/"0$"E$%$5"?"E$%$"0."E&A*$()$"A.,"?V>"i",-*)."h"(&"
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&.3"/&*.3"3.%&/$35"L$A.,$(0&V3$"X-$"."E&A*$()$"A.,"?V>"-3$"E/.)$)./"3.%&/"A.,"T&)./"0$"
E/.)$12."$%$4&0.;"A<&Ei-"$"kA-%.3"$3A-/.3;"X-&(0."."3.%"$3)*4$/"*()$(3.5"Z3)."(2."i",.)*4."
E&/&"0$*@&/"&"A/*&(1&"0$()/."0$"A&3&5"J%$3"0*4$/)$,V3$"T./&"0$"A&3&"A.,."X-&%X-$/".-)/&"
E$33.&;"0$4$(0."3$/"*(A$()*4&0.3"&"T&+$/")-0."."X-$"T./$,"A&E&+$3"0$"T&+$/")&()."0$()/."
X-&()."T./&"0$"A&3&5
CÂNCER E RISCO DE EXPOSIÇÃO À RADIAÇÃO EM PORTADORES DO
U>?>"B;7"
EF" C2/5$"&'"#`(5'%6"J3)-0.3"$E*0$,*.%k'*A.3"0$)$A)&/&,",&*./"/*3A."0$"Ar(A$/"0$",&,&"
(&3" ,-%<$/$3" A-O&3" T&,[%*&3" )q," -," E&A*$()$" A.,"?V>5" B.()*(-&V3$" &" $3)-0&/;" )$()&(0."
&4&%*&/"-,",&*./"/*3A."0$"Ar(A$/"0$",&,&"(&"E.E-%&12."0$",-%<$/$3"X-$"32."E./)&0./&3"
0."'$($"?V>5"
62
" R$,"X-$"<&O&"($(<-,&"*(T./,&12."A.()/M/*&;"/$A.,$(0&V3$"A.(3*0$/&/"X-$"$@*3)$"-,"
E$X-$(."&-,$()."0."/*3A."0$"Ar(A$/"0$",&,&"(&3"E./)&0./&3"0$"?V>"$").,&/"&3",$0*0&3"
($A$33M/*&35"?"$3)&)[3)*A&"X-$",.3)/&"."&-,$()."0."Ar(A$/"0$",&,&"(&3"T&,[%*&3"X-$")q,"
E./)&0./$3"0$"?V>".A.//$"$,",-%<$/$3"A.,"*0&0$"&A*,&"0$"cn"&(.35"L$A.,$(0&V3$"/$&%*V
+&/"$@&,$3"E$/*k0*A.35"B&3."<&O&"(.4.3"0&0.3"$3)&)[3)*A.3"X-$"3-'*/&,"."&-,$()."0$3)$"
/*3A." $," ,-%<$/$3" ,&*3" O.4$(3;" X-$" 3$O&," E./)&0./&3;" &3" /$A.,$(0&1Y$3" 0.3" $@&,$3"
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4.%4$/$," %$-A$,*&" %*(T.A[)*A&" A/}(*A&;" $()/$)&()." $@&,$3" E&/&" )/*&'$," 0$3)&" 0.$(1&" (2."
$@*3)$,5
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*,E&A)."3*'(*h"A&)*4."(.")/&)&,$()."$"(."/$3-%)&0.5"#./)&().;"i"0$3$OM4$%")$/"-,"E/.'/&,&"
0$"$@&,$3"$h"A*$()$3"E&/&".S)$/"."0*&'(k3)*A.".",&*3"A$0."E.33[4$%"$,"E$33.&3"X-$")q,"
,&*./"/*3A."0$"0$3$(4.%4$/"$3)$")*E."0$"Ar(A$/5"g."$()&().;"$3)&"E.33*S*%*0&0$""$,"E./)&0.V
/$3"0$"?V>"&A*,&"0$"cn"&(.3",-0&"&"/$A.,$(0&12.5"P"$@&,$"&)-&%""E&/&"0$)$A)&/"Ar(A$/"
0$",&,&"i"&",&,.'/&h"&5"|"-,"$@&,$"$h"A*$()$;",&3"X-$"$,*)$"-,&"E$X-$(&"/&0*&12."
*.(*+&()$" $;" 0$3)&" T./,&;" E.0$" &-,$()&/" ." /*3A." 0$" Ar(A$/" 0$" ,&,&" $," E./)&0./&3" 0$"
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E/M)*A&"A.,-,"0&3",-%<$/$3"(.3"JK?"i"T&+$/"-,&",&,.'/&h"&"*(*A*&%"$()/$"o_"$"dn"&(.3~"
$()/$".3"dn"$".3"_n;"&"A&0&"e".-"o"&(.3"$"&Ek3".3"_n;"-,&",&,.'/&h"&"&(-&%5"B.,.;"(&3"
E./)&0./&3"0$"?V>"."/*3A."&-,$()&"3.,$()$"&"E&/)*/"0.3"cn"&(.3;"(2."<M"&"($A$33*0&0$"0$"
&-,$()&/"&"T/$X-q(A*&"0&3",&,.'/&h"&3"A.,."&A.()$A$"A.,"E$33.&3"3-3A$)[4$*3"&".-)/.3"
'$($35"?"E&/)*/"0.3"cn"&(.3"&"T/$X-q(A*&"&(-&%"0.3")$3)$3"i"/$A.,$(0&0&"E&/&",-%<$/$3"
E./)&0./&3"0$"?V>"$"E.0$/M"3$/"&%)$/&0&"3$"(.4.3"0&0.3"*(0*A&/$,"X-$"."/*3A."3$"0M"A.,"
*0&0$"*(T$/*./5"g."H/&3*%;"&)-&%,$()$;"/$A.,$(0&V3$"-,&",&,.'/&h"&"&(-&%"&"E&/)*/"0.3"dn"
&(.35"P",&*3"*(0*A&0."i"E/.A-/&/"."3$-",i0*A."$"$@E./"."E/.S%$,&5
Toda mulher portadora do gene A-T deve fazer o auto exame de mama
mensalmente.
" P"&-)."$@&,$"i"$h"A*$()$"$"(."A&3."0$"&%'-,&"&%)$/&12.;".-)/.3"$@&,$3"3$/2."/$A.V
,$(0&0.35"B&3."4.Aq"(2."3&*S&"T&+$/;"3.%*A*)$"&O-0&"&."3$-",i0*A.5
OF" C2/5$"&'"'N-$/2*+$")$/"%)2$/;W6"J3)M"A.,E/.4&0."X-$"&3"/&0*&1Y$3"*.(*+&()$3"&-V
,$()&,"."/*3A."0$"Ar(A$/"0$",&,&;",&3"(2."$3)M"S$,"A%&/."X-&%"i"."&-,$()."0$3)$"/*3A."
0$4*0."&.3"/&*.3Vs",i0*A.35"B.,."T.*"$@E%*A&0."&()$/*./,$()$;"0$4$V3$"%*,*)&/;"&.",M@*V
,.;"&"[email protected]*12."0&3"E./)&0./&3"0$"?V>"&.3"/&*.3Vs5"J,".-)/&3"E&%&4/&3;"0*&'(k3)*A.3"A.,"
/&*.3Vs"0$4$,"3$/"T$*).3"3.,$()$"X-&(0."&"T&%)&"0$3)$"$@&,$"E.33&"&%)$/&/"&"0$h"(*12."0."
)/&)&,$().",i0*A.5"g2."i"&S3.%-)&,$()$"($A$33M/*."$4*)&/"."/&*.Vs"&"X-&%X-$/"A-3).;",&3"
3*,"/$0-+*V%."&.",M@*,."E.33[4$%;"$3E$A*&%,$()$"3$"."/&*.Vs"T./"-,&"/&0*.'/&h"&"0.")k/&@"
X-$"&'$"0*/$)&,$()$"3.S/$".")$A*0."0&",&,&5"
Assim como para pacientes com A-T, para os portadores não existe
nenhum benefício evidente a ser alcançado com uma mega dose de vi%(-58(13!G!-(51!'(H+X;&$!2-(!,5&%(!9($(8.&(,(K!.+-!0+2.(1!>+',2'(1K!
incluindo vitaminas diárias.
63
Fig. 9-1: Faça o que !zer não fume!
YF" C'5$3'(&)*u'/"-)%)"2&'(.2Q"5)%"-$%.)&$%'/"&'"B;76"K,&"E$/'-()&"T/$X-$()$"3-/'$\"
=v-&*3"32.".3",$,S/.3"0&"T&,[%*&;")*&3;")*.3;"E/*,.3"$"A.(3&('-[($.3"X-$"0$4$,"3$/")$3)&V
0.3"E&/&"0$)$/,*(&/"3$"32."E./)&0./$3"0$"?V>€C5"J33&"X-$3)2."i"A.,E%$@&"$"($A$33*)&"0$"
-,&"0*3A-332."E$33.&%"E&/&"&4$/*'-&/"&3"($A$33*0&0$3"*(0*4*0-&*3"&"3$/$,"A.(3*0$/&0&35"
B.,."(2.")$,.3"-,&"E/$4$(12."$h"A*$()$".-"-,&"$3)/&)i'*&"0."E.)$(A*&%"/*3A."0."Ar(A$/"
0&",&,&;"(2."h"A&"A%&/."X-&*3"32.".3"S$($T[A*.3"0$"3&S$/"X-$,"i"E./)&0./"0$"?V>5"Z33."i"
4$/0&0$;"OM"X-$"&3"/$A.,$(0&1Y$3"E&/&"$@&,$"0$",&,&"(2."32."0*T$/$()$3"E&/&".3"E./)&V
0./$3"0$"?V>"$"."/$3)."0&"E.E-%&12.5
64
Arman K. Farr
The Zanvyl Krieger Children’s Eye Center
Michael X. Repka
Johns Hopkins Medical Institute
" J,"E&A*$()$3"A.,"?V>".S3$/4&,V3$"0*4$/3&3"&%)$/&1Y$3"(."'%.S.".A-%&/"&33*,"A.,."
(.3",.4*,$().3"0.".%<.5"J3)&3"&%)$/&1Y$3"32.\
`5" >$%&('*$A)&3*&3"(&"A.(O-()*4&~
e5" 6$3&%*(<&,$()."0.3".%<.3"^$3)/&S*3,.a~
o5" 9.4*,$()."&(./,&%"0.".%<.~
d5" #/.S%$,&3"A.,"&"&A.,.0&12.".A-%&/"^,-0&(1&"0."T.A."0$"%.('$"E&/&"E$/).a~
_5" #/.S%$,&3"A.,"A.(4$/'q(A*&"Â.(4$/'*/".3".%<.3"E&/&".%<&/".SO$).3"E/k@*,.3a5
" ?"&%)$/&12."(.3".%<.3",&*3"E$/A$E)[4$%"$"T/$X-$()$"i"&"E/$3$(1&"0$"4&3.3"3&('-[($.3"
,&*3"E/.$,*($()$3"(&"E&/)$"S/&(A&"0.".%<.5"J33$3"4&3.3"32."A<&,&0.3"0$"=)$%&('*$A)&3*&"
A.(O-()*4&%C" $" (2." 32." E/$O-0*A*&*35" g2." 3$" 3&S$" E./X-$" $3)$3" 4&3.3" A/$3A$," 0$" T./,&"
&(./,&%"$,"E&A*$()$3"A.,"?V>5"J%$3"(2."$3)2."E/$3$()$3"(."(&3A*,$().;",&3"'$/&%,$()$"
)./(&,V3$"4*3[4$*3"0.3"d"&.3"l"&(.3"0$"*0&0$5
! S-!(0'+f5-(,(-&8%&!IU]!,+1!0(.5&8%&1K!(!%&$(8>5&.%(15(!+.2$('!828.(!
aparece, o que torna o diagnóstico da A-T mais difícil. A telangiectasia
não traz consequências para a visão.
" J@A$)."E$%&"E/$3$(1&"0&")$%&('*$A)&3*&;"."'%.S.".A-%&/"i"(./,&%5"?3"A/*&(1&3"A.,"?V>"
)q,"&",$3,&"&A-*0&0$"4*3-&%"E&/&"0*3)r(A*&"^<&S*%*0&0$"0$"4$/".SO$).3"T.A&0.3a"$"0*3)*(V
'-$,"&3"A./$3"A.,.".-)/&3"A/*&(1&3;"$"E/$A*3&,"0$"%$()$3"A.//$)*4&3"(&",$3,&"T/$X-q(A*&"
X-$"&3".-)/&35"?",i0*&"0&"&A-*0&0$"4*3-&%"E&/&"0*3)r(A*&"(.3"E&A*$()$3"A.,"?V>")$,"3*0."
enfon;"-,"E.-A.",$(./"X-$"&"4*32."E$/T$*)&"enfen5"g."$()&().;"&"4*32."0$"E$/)."E.0$"3$/"
&T$)&0&"E$%&"0*h"A-%0&0$"(&"&A.,.0&12.5"?"&A.,.0&12."i"&"A&E&A*0&0$"0.".%<."0$"&O-3)&/"
."T.A."0$"%.('$"E&/&"E$/).5":$()*02.".-"&-3q(A*&"0$"&A.,.0&12.".A.//$"$,",-*).3"E&A*$(V
)$3"A.,"?V>5"?"0*h"A-%0&0$"E&/&"T.A&/"0$"E$/)."E.0$"3$/"A.,E$(3&0&"E$%."-3."0$"kA-%.3"0$"
%$*)-/&5
Fig. 10-1: Telangiectasias são agrupamentos
anormais de vasos sanguíneos “torcidos”. Eles
fazem com que o olho pareça irritado.
O desalinhamento ocular (estrabismo) é encontrado em pacientes com
A-T numa porcentagem muito maior do que em indivíduos normais.
65
CAPÍTULO 10
O OLHO E A VISÃO
" g&",&*./*&"0.3"A&3.3;".3".%<.3")q,"$3)/&S*3,."A.(4$/'$()$"^$3.)/.E*&"V"0$34*."0."$*@."
4*3-&%"0$"-,".%<."$,"0*/$12."&.".-)/.".%<.a;",&3"&%'-,&3"4$+$3;".3".%<.3")q,"$3)/&S*3,."
0*4$/'$()$"^$@.)/.E*&"V"0$34*."0."$*@."4*3-&%"0$"-,".%<."$,"0*/$12.".E.3)&"0.".-)/.a5"J,"
&,S.3".3"A&3.3;".3".%<.3"(2.")/&S&%<&,"O-().3"$"."Ai/$S/."-3&"3.,$()$"-,&"0&3"0-&3"
*,&'$(3"&E/$3$()&0&3"E$%.3".%<.3"0$3&%*(<&0.35"9-*)&3"4$+$3;"&"A.(4$/'q(A*&"i"E/$O-0*V
A&0&"&"E.()."0.3".%<.3"(2."A.(3$'-*/$,"0*/*'*/V3$"&0$X-&0&,$()$"E&/&".SO$).3"E/k@*,.3"
A.,.;"E./"$@$,E%.;"%*4/.35"P"$3)/&S*3,."E.0$"3$/"-,"E/.S%$,&"E$X-$(."X-$"(2."($A$33*)$"
0$")/&)&,$().;".-"-,"'/&(0$"E/.S%$,&"X-$"E.0$"A&-3&/",&*./$3"A.(3$X-q(A*&3"(&"4*32.5"
P3"kA-%.3"E.0$,"&O-0&/5"J,"&%'-(3"A&3.3"0$"$3)/&S*3,.;")./(&V3$"($A$33M/*&"-,&"A*/-/'*&"
(.",u3A-%.".A-%&/"T$*)&"E./"-,".T)&%,.%.'*3)&5"g&",&*./*&"0.3"E&A*$()$3"A.,"?V>".3"/$3-%V
)&0.3"32."E/.,*33./$3;"A.,"S.,"&%*(<&,$()."0.3".%<.35
" J,"X-&3$").0.3"E&A*$()$3"A.,"?V>;".S3$/4&V3$"-,"A.()/.%$"&(./,&%"(.3",.4*,$().3"
0.3".%<.3"^4$O&"B&E[)-%."=#/.S%$,&3"g$-/.%k'*A.3a5"g2."$3)M"A%&/&"&"A&-3&"0$33$3"E/.S%$V
,&3;",&3"i"E/.4M4$%"X-$"3$O&"0$4*0."&"&(./,&%*0&0$3"E/.'/$33*4&3"0."A$/$S$%."$"0.")/.(A."
A$/$S/&%5
" 9-*).3"E&A*$()$3"A.,"?V>"3$"X-$*@&,"0&"0*h"A-%0&0$"(&"%$*)-/&5"#/.4&4$%,$()$"*3)."3$"
0$4$"t"*(&S*%*0&0$"0$"A.()/.%&/"&0$X-&0&,$()$"0*T$/$()$3"E&/)$3"0.",.4*,$()."0.".%<.5"|"
."X-$"0*h"A-%)&"."0$3%.A&,$()."0.3".%<.3"0$"-,&"E&%&4/&"t".-)/&"(-,&"%*(<&"$3A/*)&;".-"0$"
-,&"%*(<&"0.")$@)."E&/&"&"E/k@*,&5"P-)/."T&)./"X-$"A.()/*S-*",-*).")&,Si,"i"&"0*h"A-%0&0$"
(&"A.(4$/'q(A*&;".-"3$O&;")/&+$/".3".%<.3"&0$X-&0&,$()$"E&/&"T.A&/".SO$).3"E/k@*,.35"J,V
S./&"(2."$@*3)&;"&)i".",.,$().;"($(<-,&"T./,&"0$")/&)&/"$3)$3"E/.S%$,&3;",-*)&3"&0&E)&V
1Y$3"E.0$,"3$/"T$*)&3"E&/&",$%<./&/"&"<&S*%*0&0$"0$"%$*)-/&"^4$O&"B&E[)-%."=>$A(.%.'*&"?3V
3*3)*4&"E&/&"B.,-(*A&12."J3A/*)&Ca5"?%i,"0*33.;"&"&A.,.0&12."0$h"A*$()$"E.0$"3$/"A.//*'*0&"
E$%."-3."0$"kA-%.3"0$"%$*)-/&;",$%<./&(0."."T.A."0.",&)$/*&%"$3A/*).5
" 6$",.0."'$/&%;".3"E&A*$()$3"A.,"?V>")/&S&%<&,"S$,"$,")&/$T&3"4*3-&*35"P",&*./"E/.V
S%$,&"E&/$A$"3$/"&"0*h"A-%0&0$"(&"%$*)-/&;")&%4$+"E$%&3"%*,*)&1Y$3"0.3",.4*,$().3"0.3".%<.3;"
." X-$" 3$,E/$" 4.%)&" &." E.()." 0&" *(3-h"A*q(A*&" 0&" A.(4$/'q(A*&5" P-)/&" &(./,&%*0&0$" $(V
A.()/&0&"i"."0$3&%*(<&,$()."0.3".%<.3;"."X-$"E.0$"/$X-$/$/"A*/-/'*&5"J@A$)."E$%.3"4&3.3"
0*%&)&0.3"$,"3-&"3-E$/T[A*$"^)$%&('*$A)&3*&"A.(O-()*4&%a;".3"'%.S.3".A-%&/$3"32."(./,&*3"$,"
X-&3$").0.3".3"E&A*$()$3"$"&",&*./*&")$,"S.&"&A-*0&0$"4*3-&%5
Q!QTbQ!E#!#J?
! "! #!-(5+'5(!,+1!0(.5&8%&1!%&-!%&$(8>5&.%(15(1!N;(1+1!1(8>278&+1!0'+&J
minentes, porém sem consequências ) na parte branca do olho (con! ! k28%5;(V3
! "! #!;51*+!N.(0(.5,(,&!,&!;&'!+9k&%+1!&-!6+.+V!G!8+'-($3
! "!Q!,&1($58/(-&8%+!+.2$('!N&1%'(951-+V!G!.+-2-K!-(1!0+,&!1&'!.+''5J
! ! >5,+3
! "! bX!,5=culdade em mover os olhos juntos para focar objetos próximos
! ! N.+8;&'>@8.5(V3
! "!Q!-(5+'!0'+9$&-(!G!(!$&5%2'(!,&;5,+!(+1!-+;5-&8%+1!,+1!+$/+1!8*+
serem contínuos, e há problemas em coordenar os movimentos dos
olhos com os movimentos da cabeça.
66
James R. Christensen - M.D.
Director of Pediatric Rehabilitation
Kennedy Krieger Institute
Baltimore – EUA
A REABILITAÇÃO E ATAXIA TELANGIECTASIA
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ou as habilidades de um indivíduo, apesar das di=culdades existentes
ou que venham a desenvolver, e fazer isso na forma menos incômoda
possível (numa maneira que seja bastante prazerosa, com baixo custo,
tempo e esforço despendido, e o mínimo de sobrecarga tanto para a
pessoa como para a família).
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67
CAPÍTULO 11
PRINCÍPIOS GERAIS DA REABILITAÇÃO
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h"A.3;"3.S"A$/)&3"A*/A-(3)r(A*&35"P"T&)."0$")$/"-,"$X-*E&,$().;"(2."3*'(*h"A&"X-$"&"E$33.&"
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*,E$0*/"X-$"&"E$33.&"&(0$"Â.,".-"3$,"&-@[%*.a"E$X-$(&3"0*3)r(A*&35
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creativo que seja terapêutico, mas nem todos necessitam de “terapia”
o tempo todo. Este programa recreativo deve ser divertido, adequado a
sua idade e que seja adaptado às suas habilidades e desejos individuais.
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68
Eileen M. Atkins
Baltimore – EUA
INTRODUÇÃO
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A AVALIAÇÃO DA FISIOTERAPIA
A =sioterapia avalia:
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69
CAPÍTULO 12
bTpAVAPBP>">"vBpAVAPBP>R"bT7TCBR"U>CBAR6
A FUNÇÃO DA FISIOTERAPIA
CARACTERÍSTICAS BÁSICAS
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Fig. 12-1: Sentar na posição “tipo índio” e “W”
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os pais sabem que certa hora do dia, descanso inadequado, uma doença ou outros desa=os trazem problemas adicionais para as crianças e
adultos com A-T.
70
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0&3")&()."&"&%)$/&1Y$3"0."3*3)$,&"($/4.3."A$()/&%"Âi/$S/.a"A.,."E$/*Ti/*A."^($/4.3"0."A./V
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Fig. 12-2: Pé equino
O tornozelo também pode se
deformar, !cando dobrado
para dentro (pronado).
Fig. 12-3: Tornozelo
pronado
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As órteses que são usadas na panturrilha e na sola do pé (conhecidas
como órtese pé-tornozelo) podem ajudar a melhorar a marcha, principalmente se há uma tendência de oscilar para dentro ou para fora sobre um
tornozelo instável.
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Fig. 12-4: Tipos de andadores.
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Os pacientes com A-T, assim como qualquer pessoa, precisam de um
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Natação adaptada e/ou
hidroterapia
Equitação adaptada e/ou
equoterapia
74
Bicicleta estacionária
Triciclos
Dança
Máquina de remo
Fig. 12-5: Possíveis atividades recreacionais.
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75
CAPÍTULO 13
TERAPIA OCUPACIONAL PARA
DB#A>?7>R"#Tb"B;7
Mary Lashno - OTR/L
Baltimore - EUA
A FUNÇÃO DO TERAPEUTA OCUPACIONAL
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A AVALIAÇÃO DA TERAPIA OCUPACIONAL
A essência da avaliação da terapia ocupacional modi=ca-se conforme o
crescimento e desenvolvimento da criança.
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76
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$3)2.")$()&(0.".%<&/5
A maioria das crianças com A-T é muito criativa e desenvolve padrões
compensatórios para aumentar seus êxitos na realização das atividades.
Algumas dessas técnicas são adequadas, mas muitas interferem nas habilidades para conseguir realizar, com sucesso, tarefas mais complexas.
77
ORIENTAÇÕES DA TERAPIA OCUPACIONAL
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Fig. 13-1: Cadeira com base alargada,
apoio regulável de braços, assento e
encosto, permitindo o apoio total dos pés.
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Fig. 13-3: Cadeira de banho, barras para box e tapete antiderrapante.
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Fig. 13-4: Escova de dentes elétrica ou com adaptador, altura adequada
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SITES ÚTEIS
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84
Jane C. Kunze
Baltimore - EUA
INTRODUÇÃO
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A fadiga afeta todos os aspectos das funções
Origem da fadiga
Impacto da fadiga
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88
Katherine Ferguson - MS CCC-SLP
Asst. Director, Speech-Language Dept.
Kenedy Krieger Institute
Baltimore – EUA
INTRODUÇÃO
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terística mais perceptível de um paciente com A-T e é um componente
importante para avaliação.
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89
CAPÍTULO 15
A FALA E A LINGUAGEM
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.S3$/4&/"&"<&S*%*0&0$"0."E&A*$()$"0$"A.,-(*A&/"T-(A*.(&%,$()$"3-&3"($A$33*0&0$3"0*M/*&35"
J3)&3"($A$33*0&0$3".S4*&,$()$"3$",.0*h"A&,"(&",$0*0&"$,"X-$"&"A/*&(1&"A/$3A$5
CARACTERÍSTICAS GERAIS DA LINGUAGEM E DA FALA
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A di=culdade de comunicação mais óbvia e evidente do paciente com
A-T é a fala arrastada conhecida como disartria.
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Uma característica comum de muitos pacientes com A-T é a necessidade de mais tempo para processar uma informação e responder adequadamente.
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nem sempre este fato é evidente é importante que as pessoas saibam
que isto pode ser uma necessidade.
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o envolvimento ativo do paciente, ao invés de esperar uma resposta
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que o paciente possa sentir quando chamado a atenção ao problema.
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cadeira, mantendo um ângulo de 90º. entre os joelhos.
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96
Loreta McPartland, Lynnley Moore e Nancy Inman
Baltimore – EUA
INTRODUÇÃO
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tínuo, um computador adaptado é sempre uma ferramenta e=caz de tecnologia assistiva para o paciente com A-T.
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O PROCESSO DE AVALIAÇÃO
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97
CAPÍTULO 16
TECNOLOGIA ASSISTIVA PARA
COMUNICAÇÃO ESCRITA
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&0$X-&0&35
RECOMENDAÇÕES
Embora sejam feitas orientações gerais para equipamentos e programas de computador, as recomendações especí=cas para cada paciente
dependem da idade, grau de habilidade, necessidades da comunicação
escrita e experiência anterior.
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98
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Fig. 17-2: Sempre tenha em
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115
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ANOTAÇÕES
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ANOTAÇÕES
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ATAXIA TELANGIECTASIA - LIVRO PARA FAMÍLIAS E PORTADORES
BRAGID

04. Ataxia telangiectasia volume 2

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