Alterações endócrinas em crianças com neurofibromatose tipo 1: O que procurar?
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986Palavras-chave:
crescimento e desenvolvimento, doenças do sistema endócrino, neurofibromatose 1, PediatriaResumo
A neurofibromatose tipo 1 (NF1) é uma das doenças genéticas mais comuns, com uma incidência reportada de 1:3000. A condição é multissistémica e os critérios diagnósticos foram recentemente revistos como uma recomendação de consenso internacional. As características clínicas da doença evoluem lenta e progressivamente e frequentemente podem estar ausentes na primeira infância. Embora descritos há várias décadas nestas crianças, condições endócrinas e distúrbios do crescimento não estão incluídos nos critérios diagnósticos da doença. No entanto, são relativamente frequentes e podem ser a forma de apresentação de glioma da via ótica. Devido ao amplo espetro de implicações na saúde da NF1, o seguimento destas crianças é muitas vezes feito em contexto de consulta de Pediatria.
O objetivo deste artigo é rever os distúrbios endócrinos mais frequentes em doentes com NF1, o que vigiar e quando referenciar os doentes à consulta de Endocrinologia pediátrica.
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Direitos de Autor (c) 2022 Maria Adriana Rangel, Marta Vila Real, Fátima Santos, Ana Luísa Leite, Rosa Arménia Campos
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