关键词: 良性复发性肝内胆汁淤积症, 临床特征, ATP8B1基因突变

Abstract: Objective The aim of this study was to summarize the clinical features of patients with benign recurrent intrahepatic cholestasis (BRIC). Methods The clinical manifestations, laboratory tests, imaging, pathological examinations, and genetic analysis in three patients with BRIC in Zhongshan Hospital, Fudan University, were retrospectively reviewed. Results The three patients were all male and their initial onset ages were below 20 year old; the common symptoms of the patients were jaundice and pruritus, and two of them also experienced abdominal distension, irregular defecation, and appetite loss; serum total bilirubin, direct bilirubin, ALP and TBA levels increased significantly, while serum GGT, ALT and AST levels stayed normal or increased slightly during the disease attack duration; no abnormal intrahepatic and extrahepatic bile ducts were found in magnetic resonance cholangiopancreatography (MRCP) examination, but obvious cholestasis of hepatocytes and capillary bile duct embolism were observed in liver histopathology; the ATP8B1 gene mutation sites with functional prediction of "potentially harmful" or "likely pathogenic" in pathogenic classification were all detected in three patients; all patients were excluded from other known causes of cholestasis, and the disease was recurrent, but with self-limiting. Conclusion The BRIC is rarely reported and its pathogenesis remains unclear currently. The clinical diagnosis might be made based on clinical manifestations, ancillary tests, and pathological findings after excluding other common causes of liver damage. For patients with high suspicion of BRIC, the genetic tests should be performed as early as possible to clarify the diagnosis and guide the management.

Key words: Benign recurrent intrahepatic cholestasis, Clinical features, ATP8B1 gene mutation