Kamran Tafiya Erum, Faisal Seyreen, Khalid Rimsha, Haider Zaira, Inam Rida, Siddiqui Yusra, Iqbal Munir, Khan Sabeen Abid
Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Islamabad Capital Territory, Pakistan.
SAGE Open Med Case Rep. 2024 Jul 26;12:2050313X241266813. doi: 10.1177/2050313X241266813. eCollection 2024.
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.
良性复发性肝内胆汁淤积症是一种常染色体隐性疾病，表现为胆汁淤积性黄疸的间歇性发作。良性复发性肝内胆汁淤积症的首发发作往往发生在患者生命的前二十年。发作可能无诱因出现，但常由感染或妊娠诱发。我们报告了一例有趣的13岁女孩复发性肝内胆汁淤积症病例。该患者有一个独特的纯合USP53基因突变，是南亚地区首例出现这种突变的患者。该患者最初被误诊为自身免疫性肝炎，在转诊至我们科室时被诊断为良性复发性肝内胆汁淤积症。此后该患者接受药物治疗，随访情况良好，对治疗反应良好。
