Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh, One Children's Hospital Drive, 6th Floor FP, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.
Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh, One Children's Hospital Drive, 6th Floor FP, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.
Gastroenterol Clin North Am. 2018 Dec;47(4):921-937. doi: 10.1016/j.gtc.2018.07.014. Epub 2018 Sep 28.
Pediatric cholestasis often results from mechanical obstruction of the biliary tract or dysfunction in the processes of forming and excreting bile. Various genetic defects with resulting molecular inaccuracies are increasingly being recognized, often with specific clinical characteristics. Identifying of the molecular abnormality can enable implementation of timely, appropriate treatment in some affected individuals and provide prognostic indicators for both families and care teams.
小儿胆汁淤积症常由胆道机械梗阻或胆汁形成和排泄过程中的功能障碍引起。越来越多的研究发现,各种遗传缺陷导致的分子错误,常伴有特定的临床特征。鉴定分子异常可使部分患儿得到及时、恰当的治疗,并为患儿家庭和医护团队提供预后指标。