Division of Pediatric Gastroenterology, Department of Pediatrics, Hepatology and Nutrition, David Geffen School of Medicine, UCLA, Los Angeles, CA.
J Clin Gastroenterol. 2023 Aug 1;57(7):686-693. doi: 10.1097/MCG.0000000000001850.
Children with cholestatic liver diseases are increasingly living into adulthood, thanks to innovations in medical and surgical therapies. The excellent outcomes observed in pediatric liver transplantation for diseases, such as biliary atresia, have transformed the life trajectory of children born with once-fatal liver diseases. The evolution of molecular genetic testing, has helped expedite the diagnosis of other cholestatic disorders, improving the clinical management, disease prognosis, and family planning for inherited disorders, such as progressive familial intrahepatic cholestasis and bile acid synthesis disorders. The expanding list of therapeutics, including bile acids and the newer ileal bile acid transport inhibitors, has also helped slow the progression of disease and improve the quality of life for certain diseases, like Alagille syndrome. More and more children with cholestatic disorders are expected to require care from adult providers familiar with the natural history and potential complications of these childhood diseases. The aim of this review is to bridge the gap between pediatric and adult care in children with cholestatic disorders. The present review addresses the epidemiology, clinical features, diagnostic testing, treatment, prognosis, and transplant outcomes of 4 hallmark childhood cholestatic liver diseases: biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, and bile acid synthesis disorders.
由于医学和外科治疗的创新，患有胆汁淤积性肝病的儿童越来越多地能够成年。儿科肝移植治疗胆道闭锁等疾病的出色结果改变了曾经致命的肝脏疾病患儿的人生轨迹。分子遗传学检测的发展有助于加速其他胆汁淤积性疾病的诊断，改善遗传疾病的临床管理、疾病预后和家庭规划，例如进行性家族性肝内胆汁淤积症和胆汁酸合成障碍。治疗方法的不断增加，包括胆汁酸和新型回肠胆汁酸转运抑制剂，也有助于减缓某些疾病（如 Alagille 综合征）的疾病进展并提高生活质量。越来越多的患有胆汁淤积性疾病的儿童需要接受熟悉这些儿童疾病自然史和潜在并发症的成人提供者的护理。本综述的目的是在患有胆汁淤积性疾病的儿童中弥合儿科和成人护理之间的差距。本综述介绍了 4 种标志性儿童胆汁淤积性肝病的流行病学、临床特征、诊断检测、治疗、预后和移植结果：胆道闭锁、Alagille 综合征、进行性家族性肝内胆汁淤积症和胆汁酸合成障碍。
