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。

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
{"title":"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。","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","doi":"10.1159/000544786","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic.</p>","PeriodicalId":9614,"journal":{"name":"Case Reports in Gastroenterology","volume":"19 1","pages":"232-237"},"PeriodicalIF":0.6000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961154/pdf/","citationCount":"0","resultStr":"{\"title\":\"Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.\",\"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\",\"doi\":\"10.1159/000544786\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic.</p>\",\"PeriodicalId\":9614,\"journal\":{\"name\":\"Case Reports in Gastroenterology\",\"volume\":\"19 1\",\"pages\":\"232-237\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961154/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Gastroenterology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000544786\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Gastroenterology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000544786","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

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。
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, 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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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
期刊介绍:
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信