Challenges and dilemmas in pediatric hepatic Wilson’s disease  

作　　者：Upasana Ghosh Moinak Sen Sarma Arghya Samanta 

机构地区：[1]Department of Pediatric Gastroenterology,Sanjay Gandhi Post graduate Institute of Medical Sciences,Lucknow 226014,Uttar Pradesh,India [2]Department of Pediatric Gastroenterology,Sanjay Gandhi Postgraduate Institute of Medical Sciences,Lucknow 226014,India

出　　处：《World Journal of Hepatology》2023年第10期1109-1126,共18页世界肝病学杂志（英文版）（电子版）

摘　　要：Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are vast,well reported in the West but poorly documented in developing countries.Hence the diagnosis is made with a constellation of clinico-laboratory parameters which have significant overlap with other liver diseases and often pose a significant dilemma for clinicians.Diagnostic scoring systems are not fool-proof.The availability and affordability of chelators in developing countries impact the drug compliance of patients.While D-penicillamine is a potent drug,its side effects lead to drug discontinuation.Trientine is cost-prohibitive in developing countries.There is no single test to assess the adequacy of chelation.Exchangeable urinary copper is an essential upcoming diagnostic and prognostic tool.In the presence of cirrhosis,hypersplenism clouds the assessment of myelosuppression of drugs.Similarly,it may be difficult to distinguish disease tubulopathy from druginduced glomerulonephritis.Neurological worsening due to chelators may appear similar to disease progression.Presentation as fulminant hepatic failure requires rapid workup.There is a limited window of opportunity to salvage these patients with the help of plasmapheresis and other liver-assisted devices.This review addresses the challenges and clinical dilemmas faced at beside in developing countries.

关 键 词：Wilson’s disease CHILDREN Hepatic Wilson disease D-PENICILLAMINE Trientine Exchangeable copper 

分 类 号：R596.1[医药卫生—内科学]