Student who looked 'drunk' finds deadly Wilson's disease behind symptoms
Alicia Goss, 19, noticed something was wrong when she struggled to hold a pen during exams. The student, from Kent, was eventually diagnosed with Wilson's disease, a build up of copper.
Abstract INTRODUCTION: Wilson's Disease (WD) is an inherited disorder of impaired hepatic copper metabolism that leads to copper accumulation in organs such as the liver and brain. Using transcranial sonography (TCS), we investigated brain changes in WD patients during de-coppering treatment. METHODS: Forty-one consecutive treatment-naïve WD patients were classified as having hepatic (WDh; n = 20) or neurological WD (WDn; n = 21) based on symptoms at diagnosis; all patients received either D-penicillamine or zinc sulfate and were observed for 24 months. TCS was performed at regular intervals from study e...
AbstractWilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase geneATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determining the frequency ofATP7B variants in a genomic sequence database. A catalogue of WD-associatedATP7B variants was constructed, and then, frequency information for these was extracted from the gnomAD data se...
ConclusionATTM could be a good treatment for the initial treatment of WD with neurological symptoms due to its high efficacy, with a lower rate of neurological deterioration than the drugs currently available, despite the potential adverse effects.
Diego L. Medina Roman S. Polishchuk Tumor resistance to chemotherapy represents an important challenge in modern oncology. Although platinum (Pt)-based drugs have demonstrated excellent therapeutic potential, their effectiveness in a wide range of tumors is limited by the development of resistance mechanisms. One of these mechanisms includes increased cisplatin sequestration/efflux by the copper-transporting ATPase, ATP7B. However, targeting ATP7B to reduce Pt tolerance in tumors could represent a serious risk because suppression of ATP7B might compromise copper homeostasis, as happens in Wilson disease. To circumve...
This article reviews the clinical pres entation, epidemiology, genetics, pathophysiology, diagnosis, and management of Wilson disease.
ConclusionBeing able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large ‐scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.
Publication date: Available online 20 February 2020Source: Stem Cell ResearchAuthor(s): Jiwei Zhang, Liting Wei, Dingbang Chen, Li Feng, Chao Wu, Rui Wang, Xunhua Li, Hongbo LiuAbstractHuman IPSC Line, ZZUNEUi004-A, was generated from a 34-year-old male patient with Wilson's Disease carrying a homozygous Pro992Leu mutation in ATP7B gene, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and vivo, and has a normal karyotype.
Authors: Bhide SR, Jakhar J, Bhargav H, Arsappa R, Seshagiri DV, Nagappa M, Sinha S PMID: 32065964 [PubMed - as supplied by publisher]
ConclusionsTherapy with DMPS and DMSA improves neurological symptoms of WD patients more quickly and leads to less aggravation, compared with therapy with DPA. The metal content in the brain of WD patients was at a low level after 3 years of treatment. DMPS and DMSA can remove metal from brain tissue faster than DPA.
This article is protected by copyright. All rights reserved. PMID: 32043565 [PubMed - as supplied by publisher]