Read by QxMD icon Read

"Wilson's disease"

Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi
BACKGROUND Liver transplantation is indicated for patients with Wilson's disease (WD) who present either with acute liver failure or with end-stage liver disease and severe hepatic insufficiency as the first sign of disease. However, almost all reported cases have been treated with death donor liver transplantation. Here we report the case of a patient with WD associated with fulminant hepatic failure (WD-FHF) who underwent living donor liver transplantation (LDLT). CASE REPORT A 17-year-old female was diagnosed with WD-FHF based on high uric copper (10 603 μg/day, normal <100 μg/day), low serum ceruloplasmin (15 mg/dL, normal >20 mg/dL) and Kayser-Fleischer (K-F) corneal ring, and acute liver failure (ALF), acute renal failure (ARF) and grade 2 hepatic encephalopathy (HE)...
March 17, 2018: American Journal of Case Reports
Omid Daneshjoo, Masoud Garshasbi
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. CASE PRESENTATION: In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing...
March 15, 2018: Journal of Medical Case Reports
Saishree Pradhan, Sriram Krishnamurthy, Barath Jagadisan, Nachiappa G Rajesh, Subashini Kaliaperumal, Suryaprakash Ramasamy, Nandeeswari Subramanian
A 12-year-old girl born to third-degree consanguineous parents presented with recurrent episodes of haematuria for 8 months in association with peri-orbital and lower limb oedema for 20 days. There was no jaundice, hepatomegaly or neurological abnormality at presentation. An older brother had died following jaundice at 10 years of age. Urinalysis showed multiple dysmorphic erythrocytes without proteinuria and there was leucopenia, thrombocytopenia and hypo-albuminaemia (23 g/L). C3 component of complementaemia was low and anti-nuclear antibodies and anti-double-stranded DNA antibodies were strongly positive by immunofluorescence...
March 12, 2018: Paediatrics and International Child Health
Ruhsen Öcal, Serkan Öcal, Mahir Kırnap, Gökhan Moray, Mehmet Haberal
OBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen...
March 2018: Experimental and Clinical Transplantation
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
Syeda Sara Batool Hamdani, Huma Arshad Cheema, Anjum Saeed, Hassan Suleman Malik, Tayaba Sehar
BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Wenshu Zheng, Huiling Li, Wenwen Chen, Jiangjiang Zhang, Nuoxin Wang, Xuefeng Guo, Xingyu Jiang
A fast (1 min), straightforward but efficient, click chemistry-based system that enables the rapid detection of free copper (Cu) ions in either biological fluids or living cells without tedious pretreatment is provided. Cu can quickly induce the conjugation between graphene oxide (GO) and a fluorescent dye via click reaction. On the basis of the high specificity of bioorthogonal reaction and the effective quenching ability of GO, the assay studied in this paper can respond to Cu ions in less than 1 min with excellent selectivity and sensitivity, which is the fastest sensor for Cu as far as it is known...
March 1, 2018: Small
Semi Ozturk, Ahmet Seyfeddin Gurbuz, Suleyman Cagan Efe, Raim Iliaz, Mutse Banzragch, Kadir Demir
Background Neurologic and liver involvement in Wilson's disease (WD) is well-documented, however, few reports demonstrated cardiac involvement. Tpe and Tpe/QT are new measures of ventricular repolarization which were recently suggested as predictor of arrythmogenesis. We aimed to evaluate ventricular depolarization and repolarization parameters including QT, QTc, Tpe intervals, Tpe/QT, Tpe/QTc ratios, and QT dispersion (QTd) in patients with WD. Materials and methods Thirty-five patients with WD and 30 healthy controls were included in the study...
March 1, 2018: Acta Clinica Belgica
Sibel Saracoglu, Kazim Gumus, Selim Doganay, Gonca Koc, Ayse Kacar Bayram, Duran Arslan, Hakan Gumus
Background Wilson's disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration. It is important to diagnose WD before central nervous system involvement. Purpose To demonstrate the early susceptibility changes associated with the copper accumulation in the brain of neurologically asymptomatic pediatric patients with WD using quantitative susceptibility mapping (QSM). Material and Methods Twelve patients with neurologically asymptomatic WD (mean age = 13.7 ± 3.3 years) and 14 age-matched controls were prospectively examined using a 1...
January 1, 2018: Acta Radiologica
Emily Reed, Svetlana Lutsenko, Oliver Bandmann
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism manifesting with hepatic, neurological and psychiatric symptoms. The limitations of the currently available therapy for WD (particularly in the management of neuropsychiatric disease), together with our limited understanding of key aspects of this illness (e.g. neurological vs hepatic presentation) justify the ongoing need to study WD in suitable animal models. Four animal models of WD have been established: the Long-Evans Cinnamon rat, the toxic-milk mouse, the Atp7b knockout mouse and the Labrador retriever...
February 23, 2018: Journal of Neurochemistry
Arnab Gupta, Santanu Das, Kunal Ray
Wilson disease (WD), a Mendelian disorder of copper metabolism caused by mutations in the ATP7B gene, manifests a large spectrum of phenotypic variability. This phenomenon of extensive symptom variation is not frequently associated with a monogenic disorder. We hypothesize that the phenotypic variability in WD is primarily driven by the variations in interacting proteins that regulate the ATP7B function and localization in the cell. Based on existing literature, we delineated a potential molecular mechanism for ATP7B mediated copper transport in the milieu of its interactome, its dysfunction in WD and the resulting variability in the phenotypic manifestation...
February 23, 2018: Metallomics: Integrated Biometal Science
Mayu Nishimuta, Kenta Masui, Tomoko Yamamoto, Yuichi Ikarashi, Katsutoshi Tokushige, Etsuko Hashimoto, Yoji Nagashima, Noriyuki Shibata
We present a case of hepatolenticular degeneration, so-called Wilson's disease (WD), in a 31-year-old Japanese man with broader deposition of copper in the liver, kidney and brain. The liver showed severe cirrhotic changes with macronodular pseudolobule formation, but there was little difference in immunohistochemical expression patterns of the copper transporter ATP7B between the control and present case. In the brain, there were both WD-related lesions such as the scattering of Opalski cells and changes caused by hepatic encephalopathy including the appearance of Alzheimer type II glia...
February 21, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Tom Plitz, Lee Boyling
1. WTX101 (bis-choline tetrathiomolybdate) is an investigational copper (Cu)-protein-binding agent developed for the treatment of Wilson Disease (WD), a rare genetic disorder caused by mutations in the ATP7B Cu-transporter and resulting in toxic Cu accumulation. 2. Mass balance of a single intravenous WTX101 dose, measured as molybdenum (Mo), was assessed over 168 h in control (Long Evans Agouti [LEA]) and Long-Evans Cinnamon (LEC) rats, a WD model. 3. In LEC rats, Mo was partially excreted (up to 45%); 29% by renal clearance, and faecal clearance, still ongoing at 168 h, accounted for 16%...
February 20, 2018: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
Piyush Gupta, Mehul Choksi, Ashish Goel, Uday Zachariah, Kattiparambil Gangadharan Sajith, Jeyamani Ramachandran, George Chandy, George Kurian, Grace Rebekah, Chundamannil Eapen Eapen
BACKGROUND: Experience with zinc in treating symptomatic hepatic Wilson's disease (WD) is limited. AIM: To study the efficacy of Penicillamine followed by zinc in treating symptomatic hepatic Wilson's disease. METHODS: We retrospectively analyzed case records of 31 symptomatic hepatic WD patients for whom disease severity scores (Child's, model for end-stage liver disease (MELD), Nazer's, and New Wilson Index (NWI) score) and 24-h urinary copper were compared at 3-time points-baseline at presentation, at transition from penicillamine to zinc and at end of follow up...
February 19, 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Siddharth Mehrotra, Naimish Mehta, Prashantha S Rao, Shailendra Lalwani, Vivek Mangla, Samiran Nundy
INTRODUCTION: Acute liver failure (ALF) is an indication for emergency liver transplantation (LT). Although centers performing only deceased donor liver transplants (DDLT) have shown improved outcomes in this situation, they still have relatively long waiting lists. An alternative would be living donor liver transplantation (LDLT), which has shown equivalent outcomes in the elective situation but there is limited evidence of its results in ALF. AIM: The purpose of this study was to assess the outcomes in patients with ALF undergoing emergency LDLT in our center in Delhi, India...
February 17, 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Claire Kelly, Marinos Pericleous
Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation...
February 15, 2018: Postgraduate Medical Journal
Robert C Oh, Thomas R Hustead, Syed M Ali, Matthew W Pantsari
Mild, asymptomatic elevations (less than five times the upper limit of normal) of alanine transaminase and aspartate transaminase levels are common in primary care. It is estimated that approximately 10% of the U.S. population has elevated transaminase levels. An approach based on the prevalence of diseases that cause asymptomatic transaminase elevations can help clinicians efficiently identify common and serious liver disease. The most common causes of elevated transaminase levels are nonalcoholic fatty liver disease and alcoholic liver disease...
December 1, 2017: American Family Physician
Anna Członkowska, Maria Rodo, Agata Wierzchowska-Ciok, Lukasz Smolinski, Tomasz Litwin
BACKGROUND & AIMS: In Wilson disease (WD), copper accumulates in the liver and other tissues due to mutations in the ATP7B copper transporter gene. Early and effective anti-copper treatment is crucial. However, routine diagnostic methods based on clinical findings, copper metabolism tests, liver biopsies and DNA analyses do not always provide a conclusive diagnosis. The aim was to evaluate radioactive copper incorporation as a diagnostic test. METHODS: We included cases with a diagnosis of WD supported by radiocopper testing and later, when available, confirmed by DNA analysis...
February 8, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
Jan Pfeiffenberger, Carlot Kruse, Peter Mutch, Andrew Harker, Karl Heinz Weiss
PURPOSE: To determine the steady state pharmacokinetics of trientine in children (≥ 12 years of age) and adult patients who had been receiving trientine dihydrochloride therapy prior to the study. METHODS: Twenty patients were exposed to trientine (trientine dihydrochloride capsules supplied by Univar) after standard oral dosing as part of ongoing therapy. Plasma trientine concentration was determined pre-dose and at 30 min, 1, 1.5, 2, 3, 4, 5, 6, 8, and 12 h post-dose...
February 7, 2018: European Journal of Clinical Pharmacology
Miroslav Vetrik, Jana Mattova, Hana Mackova, Jan Kucka, Pavla Pouckova, Olivia Kukackova, Jiri Brus, Sebastian Eigner-Henke, Ondrej Sedlacek, Ludek Sefc, Petr Stepanek, Martin Hruby
Wilson's disease is a genetic disorder that causes excessive accumulation of copper in the body, leading to toxic damage, especially in the liver and nervous system. The current treatment cause burdensome side effects. We describe the use of chemically modified biopolymer carriers based on microcrystalline cellulose and chitosan containing the highly specific copper chelator 8-hydroxyquinoline as a new type of therapy for Wilson's disease. The chelators can scavenges copper ions released from food during digestion and copper ions present in secretions in the gastrointestinal tract...
February 1, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"