Supplementary Material for: Benign recurrent intrahepatic cholestasis type 1 with novel gene mutation complicated by distal renal tubular acidosis: a case report

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, were 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.