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Abstract(s)
A Colestase Neonatal diz respeito a um grupo de doenças raras, caracterizado por
distĂșrbios do fluxo biliar que impedem parcial ou totalmente a chegada da bĂlis ao duodeno.
Se nĂŁo identificada e tratada precocemente, pode ser fatal, representando uma causa
significativa de morbimortalidade e a principal indicação para transplante hepåtico em
idade pediĂĄtrica. A sua etiologia representa um grupo em expansĂŁo de entidades definidas
molecularmente com apresentaçÔes clĂnicas sobrepostas. O diagnĂłstico oportuno Ă©
essencial para a correta e precoce identificação das causas e atuação atempada, com vista Ă
melhoria do prognĂłstico dos pacientes. Esta geralmente engloba cuidados de suporte
direcionados para as consequĂȘncias resultantes, tratamento mĂ©dico e cirĂșrgico. Agentes
como o ĂĄcido ursodesoxicĂłlico, sequestradores de ĂĄcidos biliares e a rifampicina tĂȘm sido
os pilares do tratamento, pese embora a resposta clĂnica seja insuficiente e os seus efeitos
sobre a progressĂŁo da doença sejam limitados. Estudos recentes tĂȘm permitido identificar
novos alvos promissores, contribuindo para alargar o leque de opçÔes terapĂȘuticas. Na
presente monografia consta uma pequena revisĂŁo da anatomia hepatobiliar, fisiologia da
secreção e fluxo biliares, marcha diagnóstica, etiologia e mecanismos compensatórios,
debruçando-se maioritariamente sobre os alvos e opçÔes terapĂȘuticas atuais e emergentes
para a Colestase Neonatal.
Neonatal cholestasis refers to a group of rare diseases, characterized by bile flow disorders that partially or totally prevent the arrival of bile in the duodenum. If it is not identified and treated early, it can be fatal, representing a significant cause of morbimortality and the main indication for pediatric liver transplantation. Its etiology represents an expanding group of molecularly defined entities with overlapping clinical presentations. Timely diagnosis is essential for the correct and early identification of causes and timely action, aiming to improve the prognosis of patients. This generally encompasses supportive care directed at the resulting consequences, medical and surgical treatment. Agents such as ursodeoxycholic acid, bile acid sequestrants and rifampicin have been the mainstays of treatment, although the clinical response is insufficient and its effects on disease progression are limited. Recent studies have allowed the identification of promising new targets, contributing to widen the range of therapeutic options. This monograph contains a small review of hepatobiliary anatomy, physiology of bile secretion and flow, diagnostic, etiology and compensatory mechanisms, focusing mainly on current and emerging targets and therapeutic options for Neonatal Cholestasis.
Neonatal cholestasis refers to a group of rare diseases, characterized by bile flow disorders that partially or totally prevent the arrival of bile in the duodenum. If it is not identified and treated early, it can be fatal, representing a significant cause of morbimortality and the main indication for pediatric liver transplantation. Its etiology represents an expanding group of molecularly defined entities with overlapping clinical presentations. Timely diagnosis is essential for the correct and early identification of causes and timely action, aiming to improve the prognosis of patients. This generally encompasses supportive care directed at the resulting consequences, medical and surgical treatment. Agents such as ursodeoxycholic acid, bile acid sequestrants and rifampicin have been the mainstays of treatment, although the clinical response is insufficient and its effects on disease progression are limited. Recent studies have allowed the identification of promising new targets, contributing to widen the range of therapeutic options. This monograph contains a small review of hepatobiliary anatomy, physiology of bile secretion and flow, diagnostic, etiology and compensatory mechanisms, focusing mainly on current and emerging targets and therapeutic options for Neonatal Cholestasis.
Description
Keywords
Atresia Biliar Colestase Neonatal Doença HepĂĄtica Fisiopatologia TerapĂȘutica