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Advisor(s)
Abstract(s)
Introdução: O termo colestase diz respeito aos estados patológicos que resultam numa
diminuição ou bloqueio do fluxo da bílis, quer por alterações anatómicas, quer funcionais
do sistema biliar. Tal facto leva, assim, ao aumento da concentração sérica de substâncias
habitualmente excretadas na bílis, como a bilirrubina conjugada (direta), os sais biliares
e seus metabolitos, e o colesterol. A colestase é considerada neonatal sempre que se inicia
nos 3 primeiros meses de vida, podendo prolongar-se para além deste período, e afeta 1
em cada 2.500 lactentes. A presença de hiperbilirrubinemia direta, típica no recémnascido colestático, evidencia a presença de uma doença hepatocelular ou biliar,
requerendo, por isso, uma investigação mais aprofundada da sua etiologia.
Assim sendo, a colestase neonatal intra-hepática pode ter na sua génese as doenças
genético-metabólicas, pautadas por erros herdados do metabolismo. Alguns dos achados
da história clínica poderão remeter para esta etiologia, nomeadamente a presença de um
quadro clínico agudo, com icterícia, vómitos, letargia, irritabilidade, hipoglicemia,
acidose metabólica, sinais de coagulopatia e uma elevada tendência para a falência
hepática aguda.
Objetivo: Realizar uma revisão da literatura sobre as principais doenças metabólicas de
causa genética responsáveis pela colestase neonatal, com base em artigos de relevo
publicados nos últimos anos. Pretende-se, pois, apresentar a fisiopatologia, o
diagnóstico, o tratamento e o prognóstico inerente a cada uma destas doenças, dando
uma visão bastante completa sobre este grupo tão específico de patologias.
Metodologia: Foram efetuadas duas pesquisas, uma específica e outra geral, de artigos
de relevo para o tema tratado na base de dados da PubMed utilizando combinações
específicas de termos-chave. Recorreu-se, ainda, a artigos resultantes de pesquisas
secundárias às necessidades científicas impostas ao longo da escrita da presente
dissertação.
Resultados e Conclusão: As doenças hepáticas genético-metabólicas analisadas são
entidades raras e cujo reconhecimento dos sintomas, diagnóstico e tratamento
atempados se revelam fulcrais para a sobrevivência e garantia da qualidade de vida d0s
pacientes. Torna-se essencial estar atento aos principais sinais clínicos, de forma a
realizar estudos bioquímico e genético dirigidos, que, frequentemente, são suficientes
para implementar uma terapêutica tão simples quanto um ajuste dietético. Contudo, patologias mais graves poderão condicionar uma esperança média de vida
substancialmente mais curta ou, até mesmo, a morte prematura dos pacientes, podendo
exigir soluções mais complexas, como o transplante hepático.
Introduction: The term cholestasis refers to pathological conditions that result in a decrease or blockage of bile flow, either due to anatomical or functional changes in the biliary system. This fact leads to an increase in the serum concentration of substances usually excreted in the bile, such as conjugated (direct) bilirubin, bile salts and their metabolites, and cholesterol. Cholestasis is considered neonatal whenever it starts in the first 3 months of life, but may extend beyond this period, and affects 1 in 2.500 neonates. The presence of direct hyperbilirubinemia, typical in the cholestatic newborn, evidences the presence of a hepatocellular or biliary disease, requiring, therefore, a more in-depth investigation of its etiology. Neonatal intrahepatic cholestasis may have genetic-metabolic diseases as its etiology, associated with inherited errors of metabolism. In the clinical history, we can find signs and symptoms which can be suggestive of this etiology, such as the presence of an acute clinical picture, with jaundice, vomiting, lethargy, irritability, hypoglycemia, metabolic acidosis and a high tendency towards acute liver failure. Aim: To carry out a literature review on the main metabolic diseases of genetic cause responsible for neonatal cholestasis, based on relevant articles published in recent years. It is, therefore, intended to present the pathophysiology, diagnosis, treatment and prognosis about each of these diseases, giving a complete view of this specific group of pathologies. Methods: Two searches were carried out, one specific and the other general, of relevant articles for the subject treated in the PubMed database using specific combinations of keywords. It was also taken into account articles resulting from secondary research, according to the scientific needs imposed during the writing of this dissertation. Results/Conclusion: The analyzed genetic-metabolic liver diseases are rare entities, whose symptom recognition, timely diagnosis and treatment are essential for the survival and guarantee of the patients' quality of life. It is essential to be aware of the main clinical signs, in order to carry out adequate biochemical and genetic studies, which are often enough to implement a therapy as simple as a dietary adjustment. However, more serious pathologies may lead to a substantially shorter average life expectancy or even premature death of patients, and may require more complex solutions, such as liver transplantation.
Introduction: The term cholestasis refers to pathological conditions that result in a decrease or blockage of bile flow, either due to anatomical or functional changes in the biliary system. This fact leads to an increase in the serum concentration of substances usually excreted in the bile, such as conjugated (direct) bilirubin, bile salts and their metabolites, and cholesterol. Cholestasis is considered neonatal whenever it starts in the first 3 months of life, but may extend beyond this period, and affects 1 in 2.500 neonates. The presence of direct hyperbilirubinemia, typical in the cholestatic newborn, evidences the presence of a hepatocellular or biliary disease, requiring, therefore, a more in-depth investigation of its etiology. Neonatal intrahepatic cholestasis may have genetic-metabolic diseases as its etiology, associated with inherited errors of metabolism. In the clinical history, we can find signs and symptoms which can be suggestive of this etiology, such as the presence of an acute clinical picture, with jaundice, vomiting, lethargy, irritability, hypoglycemia, metabolic acidosis and a high tendency towards acute liver failure. Aim: To carry out a literature review on the main metabolic diseases of genetic cause responsible for neonatal cholestasis, based on relevant articles published in recent years. It is, therefore, intended to present the pathophysiology, diagnosis, treatment and prognosis about each of these diseases, giving a complete view of this specific group of pathologies. Methods: Two searches were carried out, one specific and the other general, of relevant articles for the subject treated in the PubMed database using specific combinations of keywords. It was also taken into account articles resulting from secondary research, according to the scientific needs imposed during the writing of this dissertation. Results/Conclusion: The analyzed genetic-metabolic liver diseases are rare entities, whose symptom recognition, timely diagnosis and treatment are essential for the survival and guarantee of the patients' quality of life. It is essential to be aware of the main clinical signs, in order to carry out adequate biochemical and genetic studies, which are often enough to implement a therapy as simple as a dietary adjustment. However, more serious pathologies may lead to a substantially shorter average life expectancy or even premature death of patients, and may require more complex solutions, such as liver transplantation.
Description
Keywords
Tratamento Colestase Diagnóstico Erros Inatos Intrahepática Metabolismo Neonatal Prognóstico