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...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2025-04-01
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| Series: | Case Reports in Gastroenterology |
| Online Access: | https://karger.com/article/doi/10.1159/000544786 |
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| Summary: | 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. |
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| ISSN: | 1662-0631 |