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Colestase neonatal com apresentação de insuficiência hepática aguda
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Advisor(s)
Abstract(s)
A colestase neonatal com apresentação de insuficiência hepática aguda é uma condição rara
e altamente letal, cuja expressão clínica pode surgir de forma abrupta nos primeiros dias de
vida. Caracteriza-se pela conjugação de sinais de colestase como icterícia com elevação de
bilirrubina conjugada, com manifestações de disfunção hepatocelular, incluindo
coagulopatia, hipoglicemia e hiperamonemia. A progressão rápida do quadro e a
inespecificidade dos sinais iniciais tornam o diagnóstico um verdadeiro desafio clínico,
sendo frequentemente associado a elevada mortalidade quando não reconhecido e tratado
precocemente.
Esta dissertação teve como objetivo principal consolidar, num único documento, a
informação atual sobre as principais doenças colestáticas neonatais que se podem
manifestar com insuficiência hepática aguda, sistematizando a abordagem diagnóstica
recomendada e as estratégias terapêuticas específicas mais recentes. Através da revisão
crítica da literatura e da análise integrada dos diferentes algoritmos disponíveis, foi
construído um modelo de abordagem clínica faseada, capaz de orientar o médico desde os
exames iniciais até à decisão terapêutica, incluindo o encaminhamento para transplante
hepático.
São abordadas entidades com terapêutica dirigida, como a galactosemia, a tirosinémia tipo
I, a infeção por vírus herpes simples e a doença aloimune gestacional, assim como doenças
de pior prognóstico, como as mitocondriopatias e os défices genéticos multissistémicos. A
dissertação sublinha ainda a importância dos cuidados de suporte intensivo e da
implementação precoce de tratamentos empíricos, mesmo antes da confirmação
diagnóstica, como estratégia para alterar o curso da doença.
Neonatal cholestasis presenting with acute liver failure is a rare and highly lethal condition, whose clinical expression may arise abruptly within the first days of life. It is characterized by the combination of cholestatic signs, such as conjugated (direct-reacting) hyperbilirubinemia, with manifestations of hepatocellular dysfunction, including coagulopathy, hypoglycemia, and hyperammonemia. The rapid progression of the condition and the nonspecific nature of the initial signs make diagnosis a true clinical challenge, frequently associated with high mortality when not promptly recognized and treated. The main objective of this dissertation was to consolidate, in a single document, the current knowledge on the main neonatal cholestatic diseases that may present with acute liver failure, by systematizing the recommended diagnostic approach and the most recent disease-specific therapeutic strategies. A phased clinical approach model was constructed through a critical review of the literature and an integrated analysis of the various available algorithms, a, capable of guiding clinicians from the initial investigations to therapeutic decision-making, including referral for liver transplantation. This work addresses diseases with targeted therapies, such as galactosemia, tyrosinemia type I, herpes simplex virus infection, and gestational alloimmune liver disease, as well as conditions with a poorer prognosis, such as mitochondrial cytopathies and multisystemic genetic defects. The dissertation also emphasizes the importance of intensive supportive care and the early implementation of empirical treatment, even before diagnostic confirmation.
Neonatal cholestasis presenting with acute liver failure is a rare and highly lethal condition, whose clinical expression may arise abruptly within the first days of life. It is characterized by the combination of cholestatic signs, such as conjugated (direct-reacting) hyperbilirubinemia, with manifestations of hepatocellular dysfunction, including coagulopathy, hypoglycemia, and hyperammonemia. The rapid progression of the condition and the nonspecific nature of the initial signs make diagnosis a true clinical challenge, frequently associated with high mortality when not promptly recognized and treated. The main objective of this dissertation was to consolidate, in a single document, the current knowledge on the main neonatal cholestatic diseases that may present with acute liver failure, by systematizing the recommended diagnostic approach and the most recent disease-specific therapeutic strategies. A phased clinical approach model was constructed through a critical review of the literature and an integrated analysis of the various available algorithms, a, capable of guiding clinicians from the initial investigations to therapeutic decision-making, including referral for liver transplantation. This work addresses diseases with targeted therapies, such as galactosemia, tyrosinemia type I, herpes simplex virus infection, and gestational alloimmune liver disease, as well as conditions with a poorer prognosis, such as mitochondrial cytopathies and multisystemic genetic defects. The dissertation also emphasizes the importance of intensive supportive care and the early implementation of empirical treatment, even before diagnostic confirmation.
Description
Keywords
Colestase Neonatal Insuficiência Hepática Aguda Lactente Recém-Nascido