p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function.
{"title":"p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function.","authors":"Juferdy Kurniawan","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Dubin-Johnson syndrome is a rare genetic disease that causes impaired transport of bilirubin. In most cases, there will be no symptoms. However, some people might develop jaundice due to certain conditions. In this case, we would like to present a 54-year-old male patient with Dubin-Johnson syndrome confirmed through genetic analysis showing homozygote mutation of p.Gly693Arg, with no apparent bile deposition in liver biopsy and reactivation of hepatitis B. The Patient had no symptoms since birth and was recently found to have an increased level of direct bilirubin. Further inspection showed a familial pattern of the disease. This is a unique case of homozygote mutation with p.Gly693Arg with atypical presentation of liver biopsy and reactivation of hepatitis B with no clinical manifestation.</p>","PeriodicalId":6889,"journal":{"name":"Acta medica Indonesiana","volume":"57 3","pages":"387-395"},"PeriodicalIF":0.5000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta medica Indonesiana","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Dubin-Johnson syndrome is a rare genetic disease that causes impaired transport of bilirubin. In most cases, there will be no symptoms. However, some people might develop jaundice due to certain conditions. In this case, we would like to present a 54-year-old male patient with Dubin-Johnson syndrome confirmed through genetic analysis showing homozygote mutation of p.Gly693Arg, with no apparent bile deposition in liver biopsy and reactivation of hepatitis B. The Patient had no symptoms since birth and was recently found to have an increased level of direct bilirubin. Further inspection showed a familial pattern of the disease. This is a unique case of homozygote mutation with p.Gly693Arg with atypical presentation of liver biopsy and reactivation of hepatitis B with no clinical manifestation.
期刊介绍：
Acta Medica Indonesiana – The Indonesian Journal of Internal Medicine is an open accessed online journal and comprehensive peer-reviewed medical journal published by the Indonesian Society of Internal Medicine since 1968. Our main mission is to encourage the novel and important science in the clinical area in internal medicine. We welcome authors for original articles (research), review articles, interesting case reports, special articles, clinical practices, and medical illustrations that focus on the clinical area of internal medicine. Subjects suitable for publication include, but are not limited to the following fields of: -Allergy and immunology -Emergency medicine -Cancer and stem cells -Cardiovascular -Endocrinology and Metabolism -Gastroenterology -Gerontology -Hematology -Hepatology -Tropical and Infectious Disease -Virology -Internal medicine -Psychosomatic -Pulmonology -Rheumatology -Renal and Hypertension -Thyroid
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
