Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report

• DOI: 10.1159/000544786
• Publication Date: 2025-04-01T16:09:19Z
• Authors: Van Huy Vo; Chuong Dinh Nguyen; Sang The Phan; Phong Tien Quach; Thu Dang Anh Phan; Khue Minh Nguyen; Thong Duy Vo; Hoang Huu Bui

Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes. Case Presentation: We report a 25-year-old male patient with numerous hospitalizations for jaundice. The diagnosis of BRIC type 1 was established by liver biopsy, genetic analysis, and the exclusion of alternative etiologies of cholestasis. A novel missense heterozygous variant was identified in the ATP8B1 gene (c.2081T>A). The acute cholestatic attack, along with associated complications such as distal renal tubular acidosis and acute pancreatitis, was successfully managed with plasmapheresis and rifampicin. Conclusion: Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic.