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A colestase neonatal (CN) inicia-se nos primeiros três meses de vida englobando grupos
de doenças extra-hepáticas e intra-hepáticas que muitas vezes apresentam altas taxas de
morbimortalidade se não forem identificadas e tratadas rapidamente. Icterícia, fezes cor
de argila ou acólicas e colúria no lactente indicam a necessidade urgente de investigar a
CN e, a partir daí, obter o diagnóstico diferencial das causas extra e intra-hepáticas. Na
elucidação do diagnóstico etiológico, deve-se ter como prioridade a identificação de
situações que ameacem a vida e que tenham possibilidade de tratamento, como é o caso
da atresia biliar, doenças infeciosas, doenças metabólicas, e endocrinopatias. O
diagnóstico diferencial da CN é um processo trabalhoso que exige a identificação ou
exclusão precisa de um amplo painel de doenças ou grupos de doenças, por meio do uso
hábil e interpretação de métodos especializados. É imprescindível uma integração sábia
das avaliações clínico-laboratorial, histopatológica, molecular e genética, empregando
amplo conhecimento sobre cada doença avaliada, bem como as armadilhas de cada teste
diagnóstico. Na presente monografia, revisamos as armadilhas envolvidas no
diagnóstico correto da causa da colestase em uma criança afetada.
Neonatal cholestasis (NC) starts in the first three months of life, encompassing groups of extrahepatic and intrahepatic diseases that often present high rates of morbidity and mortality if they are not identified and treated quickly. Jaundice, clay-colored or colonic stools, and choluria in the infant indicate the urgent need to investigate NC and, from there, obtain the differential diagnosis of extra- and intrahepatic causes of NC. In the elucidation of the etiological diagnosis, priority should be given to identifying lifethreatening situations that have the possibility of treatment, such as biliary atresia, infectious diseases, metabolic diseases, and endocrinopathies. Differential diagnosis of NC is a laborious process that requires the accurate identification or exclusion of a broad panel of diseases or disease groups, through the skillful use and interpretation of specialized methods. A wise integration of clinical-laboratory, histopathological, molecular and genetic evaluations is essential, employing extensive knowledge about each disease evaluated, as well as the pitfalls of each diagnostic test. In this monograph, we review the pitfalls involved in correctly diagnosing the cause of cholestasis in an affected child.
Neonatal cholestasis (NC) starts in the first three months of life, encompassing groups of extrahepatic and intrahepatic diseases that often present high rates of morbidity and mortality if they are not identified and treated quickly. Jaundice, clay-colored or colonic stools, and choluria in the infant indicate the urgent need to investigate NC and, from there, obtain the differential diagnosis of extra- and intrahepatic causes of NC. In the elucidation of the etiological diagnosis, priority should be given to identifying lifethreatening situations that have the possibility of treatment, such as biliary atresia, infectious diseases, metabolic diseases, and endocrinopathies. Differential diagnosis of NC is a laborious process that requires the accurate identification or exclusion of a broad panel of diseases or disease groups, through the skillful use and interpretation of specialized methods. A wise integration of clinical-laboratory, histopathological, molecular and genetic evaluations is essential, employing extensive knowledge about each disease evaluated, as well as the pitfalls of each diagnostic test. In this monograph, we review the pitfalls involved in correctly diagnosing the cause of cholestasis in an affected child.
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Palavras-chave
Colestase Guideline Insuficiência Hepática Manifestação Clínica Neonato