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Doctoral Thesis
DOI
10.11606/T.17.2016.tde-26082016-155107
Document
Author
Full name
Rita de Cássia Carvalho Leal
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2016
Supervisor
Committee
Marques Júnior, Wilson (President)
Duarte, Geraldo
Nascimento, Osvaldo José Moreira do
Saporta, Mário André da Cunha
Sobreira, Claudia Ferreira da Rosa
Title in Portuguese
Influência da gravidez sobre a neuropatia de pacientes com a doença de Charcot-Marie-Tooth tipo 1A
Keywords in Portuguese
Doença de Charcot-Marie-Tooth
Gravidez
Abstract in Portuguese
A doença de Charcot-Marie-Tooth tipo 1A (CMT1A), associada à duplicação do gene da proteína da mielina periférica 22(PMP22), é a neuropatia hereditária mais comum. Administração diária de progesterona a modelos animais desta doença resultou em progressão mais rápida da neuropatia. Algumas mulheres por ela afetadas desenvolveram piora neurológica durante suas gravidezes. O objetivo deste estudo foi avaliar a influência de gestações sobre a neuropatia de pacientes com CMT1A. Mulheres afetadas responderam questões sobre sinais e sintomas apresentados durante suas gravidezes presentes e passadas. Pontuações nas escalas CMTNS (Charcot-Marie-Tooth Neuropathy Score) e SF-36 (Short Form Health Survey - 36) e dados coletados de avaliações clínicas e eletrofisiológicas dessas pacientes, de mulheres que nunca tiveram filhos e de homens foram comparados. Seis pacientes foram prospectivamente avaliadas durante suas gestações. Cinquenta e uma mulheres responderam questões sobre 130 gravidezes. Vinte e nove delas relataram piora de seus sintomas neurológicos em 61 gravidezes: vinte e cinco, tiveram cãibras dolorosas, três, fraqueza progressiva, duas, ataxia sensitiva, oito referiram sintomas sensitivos positivos. Algumas dessas pacientes apresentaram mais de um tipo de sintomas. As comparações entre mulheres e homens mostraram diferenças significativas nos seguintes aspectos, com pior desempenho pelas mulheres: pontuação no item do CMTNS relacionado a sintomas de membros superiores, força de abdução dos primeiros e segundos quirodáctilos, força da flexão do quadril bilateralmente, pelo MRC (Medical Research Council), amplitude do CMAP (potencial de ação muscular composto) do nervo ulnar direito em millivolts. O SF-36 teve diferença significativa nos seguintes itens, também com piores pontuações pelas mulheres: limitações devido a problemas emocionais, estado geral de saúde, saúde mental, funcionamento social, dor e vitalidade. Quando realizado cotejo entre homens, mulheres com filhos e mulheres sem filhos, dados relativos a força dos abdutores curtos dos polegares direito e esquerdo, força da flexão do quadril bilateralmente, amplitude do CMAP do nervo ulnar direito e os mesmo itens do SF-36, exceto dor e estado geral de saúde, continuaram a ter diferença significativa entre homens e mulheres, mas não entre mulheres com filhos e mulheres sem filhos. Também não houve diferença entre os dados relativos a mulheres que tiveram piora na gravidez e mulheres que não referiram piora. Das seis pacientes avaliadas prospectivamente, cinco, com a duplicação do PMP22, apresentaram piora de algum aspecto de sua neuropatia, porem retornaram à sua condição clínica prévia à gravidez em períodos variáveis de tempo. Uma, que apresentava duas muatçoes, a duplicação 17p11.2-p12 e a mutação de ponto Ser72Leu, não teve qualquer alteração. Nesta casuística, embora tenham sido encontradas diferenças significativas entre os dois gêneros, e até entre homens e mulheres com filhos, não foi observada nenhuma diferença significativa entre mulheres que referiram piora na gravidez e as que não apresentaram. A gestação teve diferentes consequências sobre a neuropatia de pacientes avaliadas, prospectivamente, porem houve retorno às condições clínica anteriores à gravidez.
Title in English
The effect of pregnancy on Charcot-Marie-Tooth type 1A disease neuropathy
Keywords in English
Charcot-Marie Tooth disease
pregnancy
Abstract in English
The Charcot-Marie-Tooth type 1A (CMT1A) associated with PMP22 duplication is the most common hereditary neuropathy. Daily administration of progesterone resulted in more progressive clinical neuropathy of transgenic rats over-expressing PMP22. There are reports of women with CMT1A who had worsening of their neurological status during pregnancy. The aim of this study was to investigate the influence of pregnancy on CMT1A neuropathy and its natural history. Women with CMT1A answered questions about neurological signs and symptoms during their past and present pregnancies. CMT NS (Charcot-Marie-Tooth Neuropathy Score) and SF 36 (Short Form Survey - 36) scores and data collected from clinical and electrophysiological evaluations of these patients, of women who didn't have child and of men were compared. Six patients were prospectively evaluated during pregnancies. Fifty-one patients answered questions about 130 pregnancies. Twenty-nine patients (56%) reported worsening of their neurological symptoms during 61 pregnancies: twenty-five women had painful cramps, three, reported progressive weakness, two patients had sensitive ataxia, six patients had positive sensory symptoms. Some of these patients had more than one kind of symptoms. Comparison between men and women showed some significant differences: CMT NS item about upper limbs symptoms; strength of right and left first dorsal interosseos muscle(ID), strength of right and left abductor pollicis brevis(APB), strength of right and left flexors of the hip, CMAP of right ulnar nerve in millivolts; SF-36 had significant difference in the following items: limitations due to emotional problems, general health, mental health, social functioning, pain and vitality, in which female had worst scores. When comparison between men, women who had child and women who didn't have child was made, data regarding strength of right and left APB, strength of right and left flexors of the hip, amplitude of right CMAP and the same items of SF-36, except pain and general health, continued to have significant differences between men and women, but not between women who had child and women who didn't had child. There was no difference between data of women who got worst during their pregnancy and women who didn't. CMT worsening during pregnancy has previously been described. Some of these patients recovered their previous status after delivery, while others did not. Several explanations have been proposed for this deterioration. In our series, five patients had deterioration during pregnancy. It seems that pregnancy may affect CMT patients in different ways. There were also some differences between men and women, but no significant worsening was found in the neurological status of women that had been pregnant. A larger prospective study should be conducted to better understand the effects of pregnancy on CMT.
 
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Publishing Date
2016-11-21
 
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