Practical insights into chronic management of hepatic Wilson’s disease  

作　　者：Erica Nicola Lynch Claudia Campani Tommaso Innocenti Gabriele Dragoni Paolo Forte Andrea Galli 

机构地区：[1]Gastroenterology Research Unit,Department of Experimental and Clinical Biomedical Sciences“Mario Serio”,University of Florence,Florence 50134,Italy [2]Department of Experimental and Clinical Medicine,University of Florence,Florence 50134,Italy [3]Department of Medical Biotechnologies,University of Siena,Siena 53100,Italy [4]Division of Gastroenterology,University Hospital“Careggi”,Florence 50134,Italy

出　　处：《World Journal of Clinical Cases》2022年第14期4334-4347,共14页世界临床病例杂志

摘　　要：Wilson’s disease(WD)is a rare inherited disorder of human copper metabolism,with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations.In healthy individuals,the bile is the main route of elimination of copper.In WD patients,copper accumulates in the liver,it is released into the bloodstream,and is excreted in urine.Copper can also be accumulated in the brain,kidneys,heart,and osseous matter and causes damage due to direct toxicity or oxidative stress.Hepatic WD is commonly but not exclusively diagnosed in childhood or young adulthood.Adherent,non-cirrhotic WD patients seem to have a normal life expectancy.Nevertheless,chronic management of patients with Wilson’s disease is challenging,as available biochemical tests have many limitations and do not allow a clear identification of non-compliance,overtreatment,or treatment goals.To provide optimal care,clinicians should have a complete understanding of these limitations and counterbalance them with a thorough clinical assessment.The aim of this review is to provide clinicians with practical tools and suggestions which may answer doubts that can arise during chronic management of patients with hepatic WD.In particular,it summarises current knowledge on Wilson’s disease clinical and biochemical monitoring and treatment.It also analyses available evidence on pregnancy and the role of low-copper diet in WD.Future research should focus on trying to provide new copper metabolism tests which could help to guide treatment adjustments.

关 键 词：Wilson’s disease Urinary copper excretion Non-ceruloplasmin-bound copper D-PENICILLAMINE Trientine Zinc salts 

分 类 号：R575.24[医药卫生—消化系统]