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

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY
Case Reports in Gastroenterology Pub Date : 2025-04-01 eCollection Date: 2025-01-01 DOI:10.1159/000544786
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
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引用次数: 0

Abstract

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.

良性复发性肝内胆汁淤积1型并新型基因突变并发远端肾小管酸中毒1例。
良性复发性肝内胆汁淤积症(BRIC)是一种罕见的常染色体隐性遗传疾病,以间歇性黄疸发作为特征。病例介绍:我们报告一位25岁的男性患者因黄疸多次住院治疗。通过肝活检、遗传分析和排除其他胆汁淤积病因,确定了BRIC 1型的诊断。在ATP8B1基因(c. 2081t>a)中发现了一个新的错义杂合变异。急性胆汁淤积发作,以及相关并发症,如远端肾小管酸中毒和急性胰腺炎,通过血浆置换和利福平成功治疗。结论:不同于文献记载的与肾小管酸中毒合并的新突变可能增强我们对这一主题的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Case Reports in Gastroenterology
Case Reports in Gastroenterology Medicine-Gastroenterology
CiteScore
1.10
自引率
0.00%
发文量
99
审稿时长
7 weeks
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