Search results for "Wilson's disease"
showing 6 items of 6 documents
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
2019
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound…
Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease
2021
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions th…
Development of cytochrome P450 2D6-specific LKM-autoantibodies following liver transplantation for Wilson's disease -- possible association with a st…
1999
Abstract Background/Aims: Antibodies to cytochrome P450 2D6, also knownas LKM1-autoantibodies, are characteristic for a subgroup of patients with autoimmune hepatitis, but can also occasionally be found in hepatitis C. We observed the occurrence of LKM1-autoantibodies 4 months after liver transplantation for Wilson's disease, in close association with a steroid-resistant rejection episode, in the absence of evidence for autoimmune hepatitis or hepatitis C. Methods: Sera from several time points prior to and following transplantation were tested for LKM-reactivity by immunofluorescence, ELISA and Western blotting. Antigen specificity was confirmed by Western blotting analysis on different cy…
Outcomes of Liver Transplant for Adults With Wilson’s Disease
2020
Wilson's disease (WD) is a rare genetic disorder with protean manifestations. Even if liver transplantation (LT) could represent an effective therapeutic option for patients with end-stage liver disease, it has remained controversial in the presence of neuropsychiatric involvement. This study aimed to examine the frequency of adult LT for WD in Italy, focusing on the disease phenotype at the time of LT. A retrospective, observational, multicenter study was conducted across Italy exploring the frequency and characteristics of adults transplanted for WD between 2006 and 2016. A total of 29 adult WD patients underwent LT during the study period at 11 Italian LT centers (accounting for 0.4% of …
Zaburzenia metabolizmu miedzi w przebiegu choroby Wilsona
2022
Choroba Wilsona jest rzadką chorobą genetyczną charakteryzującą się zaburzonym metabolizmem miedzi. Dziedziczona jest w sposób autosomalny recesywny. Kluczowym organem odpowiedzialnym za metabo- lizowanie miedzi jest wątroba. Specyficzność substratową do jonów miedzi posiada białko transportowe ATP-aza typu P-ATP7B. Enzym przyczynia się do fizjologicznego transportu miedzi we wnętrzu komórki i jego wydalania z organizmu. Zmiany w genie kodującym białko ATP7B powodują nieprawidłowe funkcjonowania enzymu i brak jego współpracy z białkiem opiekuńczym ATOX1. W efekcie miedź nie zostaje przyłączona do ceruloplazminy oraz nie jest wydalana do jelit. Następuje gromadzenie pierwiastka we wnętrzu ko…
D-penicillamine in Wilson's disease presenting as acute liver failure with hemolysis.
1982
Wilson's disease in a young woman presenting with an acute course is described. The clinical manifestations were fulminant hepatic failure associated with marked intravascular hemolysis. Immediate D-penicillamine and high-dose steroid therapy did not influence the course of the disease. Necropsy revealed an increased hepatic copper content and cirrhosis with extensive necrosis of the liver.