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Abstract(s)
Introdução: A Colestase Neonatal é uma doença rara, com uma incidência estimada de
1:2500 nados vivos. No entanto, com elevada morbilidade e mortalidade se não for
diagnosticada e tratada precocemente. Define-se como: bilirrubina direta ou conjugada >
1.0 mg/dL, num recém-nascido com icterícia prolongada, colúria e hipocolia/acolia. O seu
diagnóstico é considerado um desafio ainda nos dias de hoje.
Objetivos: Esta dissertação pretende investigar qual a abordagem diagnóstica a um recémnascido com Colestase Neonatal e como dever ser estabelecido o diagnóstico diferencial
entre as causas intra-hepáticas e extra-hepáticas.
Metodologia: Pesquisa na base de dados da PubMed de artigos que abordem as diferentes
etiologias e meios de diagnóstico relevantes para o tema da Colestase Neonatal, publicados
entre 1 de janeiro de 2014 e 1 de janeiro de 2020.
Resultados: Uma história clínica exaustiva, um exame físico completo, a observação da
coloração das fezes e achados laboratoriais específicos são orientadores nos exames a pedir
e fundamentais para a investigação. A ecografia abdominal não é suficiente para estabelecer
um diagnóstico definitivo de atresia biliar, sendo cruciais a biópsia hepática percutânea e a
colangiografia intraoperatória, para o mesmo. O sequenciamento de próxima geração é
também essencial à triagem dos diversos distúrbios metabólicos/genéticos. Contudo, a
relação custo-benefício precisa ser avaliada, continuando a ser necessário um elevado índice
de suspeição para o diagnóstico correto.
Conclusões: Na abordagem diagnóstica é importante estratégias de triagem quando o
recém-nascido apresenta um quadro sugestivo de Colestase Neonatal. A biópsia hepática
percutânea permanece o “gold standard” na avaliação diagnóstica, fornecendo um
diagnóstico correto em 90% a 95% dos casos. Embora, um acesso mais generalizado do
sequenciamento de próxima geração à população mundial e à utilização efetiva do cartão da
escala cromática das fezes são fulcrais para um aumento no rendimento diagnóstico.
Introduction: Neonatal Cholestasis is a rare disease, with an estimated incidence of 1:2500 live births. However, with high morbidity and mortality if not diagnosed and treated early. Defined as: direct or conjugated bilirubin > 1.0 mg/dL, in a newborn with prolonged jaundice, choluria and hypocholia/acolia. Nowadays, the diagnosis is still considered a challenge. Objectives: This Master’s Degree Thesis intends to investigate the diagnostic approach to a newborn with Neonatal Cholestasis and how the differential diagnosis between intrahepatic and extrahepatic causes should be established. Methodology: Search on PubMed database of articles that address the different etiologies and means of diagnosis relevant to the theme of Neonatal Cholestasis, published between January 1, 2014 and January 1, 2020. Results: An exhaustive clinical history, a complete physical examination, the observation of stool staining and specific laboratory findings are guidance to order the tests and are fundamental for the investigation. Abdominal ultrasound is not sufficient to establish a definitive diagnosis of biliary atresia, and percutaneous liver biopsy and intraoperative cholangiography are crucial for it. Next-generation sequencing is also essential for screening various metabolic/genetic disorders. Nonetheless, the cost-benefit ratio needs to be assessed, and a high level of suspicion remains necessary for the correct diagnosis. Conclusions: In the diagnostic approach, screening strategies are important when the newborn present a condition suggestive of Neonatal Cholestasis. Percutaneous liver biopsy remains the “gold standard” in the diagnostic evaluation, providing a correct diagnosis in 90% to 95% of cases. Though, a more widespread access of next-generation sequencing to the world population and effective use of the stool chromatic scale card are central to an increase in diagnostic yield.
Introduction: Neonatal Cholestasis is a rare disease, with an estimated incidence of 1:2500 live births. However, with high morbidity and mortality if not diagnosed and treated early. Defined as: direct or conjugated bilirubin > 1.0 mg/dL, in a newborn with prolonged jaundice, choluria and hypocholia/acolia. Nowadays, the diagnosis is still considered a challenge. Objectives: This Master’s Degree Thesis intends to investigate the diagnostic approach to a newborn with Neonatal Cholestasis and how the differential diagnosis between intrahepatic and extrahepatic causes should be established. Methodology: Search on PubMed database of articles that address the different etiologies and means of diagnosis relevant to the theme of Neonatal Cholestasis, published between January 1, 2014 and January 1, 2020. Results: An exhaustive clinical history, a complete physical examination, the observation of stool staining and specific laboratory findings are guidance to order the tests and are fundamental for the investigation. Abdominal ultrasound is not sufficient to establish a definitive diagnosis of biliary atresia, and percutaneous liver biopsy and intraoperative cholangiography are crucial for it. Next-generation sequencing is also essential for screening various metabolic/genetic disorders. Nonetheless, the cost-benefit ratio needs to be assessed, and a high level of suspicion remains necessary for the correct diagnosis. Conclusions: In the diagnostic approach, screening strategies are important when the newborn present a condition suggestive of Neonatal Cholestasis. Percutaneous liver biopsy remains the “gold standard” in the diagnostic evaluation, providing a correct diagnosis in 90% to 95% of cases. Though, a more widespread access of next-generation sequencing to the world population and effective use of the stool chromatic scale card are central to an increase in diagnostic yield.
Description
Keywords
Guideline Diagnosis Liver Biopsy Neonatal Cholestasis Neonatal Liver Failure Randomized Controlled Trial