PDF(Pubmed)
Abstract：
Benign recurrent intrahepatic cholestasis is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice. The initial episode of benign recurrent intrahepatic cholestasis tends to occur within the first two decades of a patient\'s life. Episodes can occur unprompted but can often be precipitated by infections or pregnancy. We report an interesting case of a 13-year-old girl presented with recurrent intrahepatic cholestasis. The patient has a unique homozygous USP53 genetic mutation, the first patient to present with this mutation within the South Asian region. The patient was initially misdiagnosed as a case of autoimmune hepatitis, and when presenting to our set-up was diagnosed as a case of benign recurrent intrahepatic cholestasis. The patient has since been managed on medication and remains regular in follow-up, responding well to treatment.
摘要：
良性复发性肝内胆汁淤积是一种常染色体隐性遗传疾病，表现为间歇性胆汁淤积性黄疸。良性复发性肝内胆汁淤积症的最初发作往往发生在患者生命的头二十年内。发作可以在没有提示的情况下发生，但通常可以由感染或怀孕引起。我们报告了一个有趣的案例，一个13岁的女孩出现了复发性肝内胆汁淤积。患者具有独特的USP53纯合基因突变，南亚地区首例出现这种突变的患者。患者最初误诊为自身免疫性肝炎,并且在我们的设置中被诊断为良性复发性肝内胆汁淤积的病例。此后，患者已接受药物治疗，并保持定期随访，对治疗反应良好。
