五例良性复发性肝内胆汁淤积患者临床特点分析

The clinical features of benign recurrent intrahepatic cholestasis:a report of five cases

目的总结良性复发性肝内胆汁淤积患者的临床特征,提高对该病的认识。方法选取2017年12月至2019年12月首都医科大学附属北京佑安医院诊治的5例良性复发性肝内胆汁淤积患者,回顾性分析其临床表现、辅助检查、诊疗经过及预后等临床资料。结果5例患者中,男4例,女1例;临床主要表现为皮肤及巩膜黄染、皮肤瘙痒;实验室检查示T-BIL升高,以D-BIL升高为主,总胆汁酸(total bile acid,TBA)、碱性磷酸酶(alkaline phosphatase,ALP)升高,GGT多数正常。5例患者均行肝穿刺活检,病理提示单纯胆汁淤积。1例行基因检测证实ATP8B1基因发生杂合突变(3040 C>T),精氨酸替换为终止密码子(Arg1014X)。结论良性复发性肝内胆汁淤积有反复发作特点,预后良好,肝穿刺活检对诊断有提示作用,进一步基因筛查有助于明确诊断。

Objective To summarize the clinical features of patients with benign recurrent intrahepatic cholestasis and to improve the understanding of the diseas.Methods Five patients diagnosed as benign recurrent intrahepatic cholestasis were treated in Beijing Youan Hospital from December 2017 to December 2019.The clinical manifestations,auxiliary examination,diagnosis,treatment and prognosis of the patients were analyzed retrospectively.Results Among the five patients,four were males and one was female.The main clinical manifestations were jaundice and refractory pruritus.Laboratory biochemical examination showed that T-BIL was increased,mainly D-BIL.Total bile acid(TBA),alkaline phosphatase(ALP)were increased,and gamma-glutamyl transpeptidase(GGT)was mostly normal.All five patients underwent liver biopsy and pathology showed simple cholestasis.Genetic testing of one patient confirmed a mutation in the ATP8 B1 gene.The cytosine was replaced by thymine(3040 C>T),leading to an amino acid substitution from arginine to termination codon(Arg1014 X)at the protein level.Conclusions Benign recurrent intrahepatic cholestasis is characterized by recurrent episodes and has a good prognosis.Liver biopsy is helpful for the diagnosis.Further genetic screening can help to confirm the diagnosis.