Nile of Hope Hospital for Congenital Anomalies, Alexandria, Egypt.
Faculty of Medicine, Alexandria University, Alexandria, Egypt.
J Med Case Rep. 2024 Sep 7;18(1):434. doi: 10.1186/s13256-024-04662-5.
Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure. Classically, progressive familial intrahepatic cholestasis is classified into three subtypes: 1, 2, and 3 and results from a defect in a biliary protein responsible for bile formation and circulation in the liver. In the last decade and with the increased use of genetic testing, more types have been known.
A 6-month-old Afrocentric boy presented with progressive jaundice and pruritus that started since the age of 2 months. He was thoroughly investigated to be finally diagnosed as progressive familial intrahepatic cholestasis type 4. A low-fat diet, ursodeoxycholic acid, fat-soluble vitamins, and cholestyramine were started. He showed initial improvement then had refractory pruritus and impaired quality of life. He underwent surgical biliary diversion at the age of 1 year with marked improvement of manifestations.
Owing to the increased technology of genetic testing, more clinical subtypes of progressive familial intrahepatic cholestasis were diagnosed other than the classical three types. Surgical management using biliary diversion could be beneficial and delays or may even obviate the need for liver transplantation.
进行性家族性肝内胆汁淤积症是一种常染色体隐性遗传疾病，主要表现为黄疸和瘙痒，可从持续性胆汁淤积进展为肝硬化和儿童晚期肝功能衰竭。经典的进行性家族性肝内胆汁淤积症分为三个亚型：1、2 和 3，由负责胆汁形成和在肝脏中循环的胆蛋白缺陷引起。在过去十年中，随着基因检测的广泛应用，已经发现了更多的类型。
一名 6 个月大的非洲裔男孩，自 2 个月大时开始出现进行性黄疸和瘙痒。他经过全面检查，最终被诊断为 4 型进行性家族性肝内胆汁淤积症。开始采用低脂饮食、熊去氧胆酸、脂溶性维生素和考来烯胺进行治疗。他最初有所改善，但随后出现难治性瘙痒和生活质量受损。他在 1 岁时接受了胆道分流术，症状明显改善。
由于基因检测技术的提高，除了经典的三种类型外，还诊断出更多的进行性家族性肝内胆汁淤积症临床亚型。使用胆道分流的手术治疗可能有益，可以延迟甚至避免肝移植的需要。
