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}
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.