Benno Kohlmaier, Heidelis Tichy, Jasmin Blatterer, Holger Till, Axel Schlagenhauf, A S Knisely
{"title":"Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.","authors":"Benno Kohlmaier, Heidelis Tichy, Jasmin Blatterer, Holger Till, Axel Schlagenhauf, A S Knisely","doi":"10.1002/jpr3.12131","DOIUrl":null,"url":null,"abstract":"<p><p>An infant with biliary atresia had normal-range ('low') serum gamma-glutamyltranspeptidase (GGT) activity, exceptional because GGT generally is elevated in biliary atresia. Mechanisms underlying low-GGT cholestasis in biliary atresia are not defined, but the phenomenon is associated with worse clinical outcome. Testing in our patient revealed no variants in genes mutated in several disorders also associated with poor prognosis and with low-GGT cholestasis; indeed, at age 14 months she has stable disease with unremarkable biomarker values. Nonetheless, we recommend extended investigations in such patients, including genetic testing, to detect coexistent disorders and to expand understanding of GGT in biliary atresia.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"533-537"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600354/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JPGN reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/jpr3.12131","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
An infant with biliary atresia had normal-range ('low') serum gamma-glutamyltranspeptidase (GGT) activity, exceptional because GGT generally is elevated in biliary atresia. Mechanisms underlying low-GGT cholestasis in biliary atresia are not defined, but the phenomenon is associated with worse clinical outcome. Testing in our patient revealed no variants in genes mutated in several disorders also associated with poor prognosis and with low-GGT cholestasis; indeed, at age 14 months she has stable disease with unremarkable biomarker values. Nonetheless, we recommend extended investigations in such patients, including genetic testing, to detect coexistent disorders and to expand understanding of GGT in biliary atresia.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
