Wilson's disease: Fatal when overlooked, curable when diagnosed

Wilson ’s disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene. Copper is an essential micronutrient which is incorporated into a variety of proteins and metalloenzymes (cytochrome C oxydase, superoxide dismutase, dopamine-ß hydroxylase, lysil-oxydase, tyrosinase), as we ll as being necessary for the proper growth, development, and function of many organs, including the liver, bone, connective tissue, brain, and heart.1,2
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Hepatology Snapshot Source Type: research

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Authors: Cleymaet S, Nagayoshi K, Gettings E, Faden J Abstract Introduction: This paper reviews the presenting signs and symptoms of Wilson's disease, with an emphasis on the recognition and treatment of neuropsychiatric symptoms. Areas covered: A literature search was conducted using PubMed.gov utilizing the following keywords: Wilson Disease, neuropsychiatric, psychiatric symptoms, treatment, antipsychotics, mood stabilizer, psychotherapy, antidepressant, ATP7B. The diagnosis of Wilson's disease and the treatment of hepatic and neuropsychiatric symptoms are reviewed. Expert opinion: Wilson's disease is a rare autoso...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
Condition:   Wilson's Disease Intervention:   Other: No intervention Sponsor:   Wan-Jin Chen Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: ImageJ-based analysis of Pentacam images has a high sensitivity in detecting Kayser–Fleischer rings and can be used as a diagnostic procedure for Wilson disease and may be a tool to monitor the disease in an objective manner.
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research
Wilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. WD requires lifelong pharmacotherapy and treatment ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Authors: Bigdon E, Feuerstacke J, Steinhorst NA, Spitzer M Abstract Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body. Deposits are found mainly in the liver, brain and eye. If left untreated, the disease can lead to movement disorders, personality changes, liver failure and even death. There are many possible differential diagnoses. Diagnosis can only be made through specific test procedures. The ophthalmologist therefore has a special role in the early detection of a Wilson's disease. In our clinic, a 19-year old female patient presented wit...
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
We report a pediatric case of D-penicillamine induced ANCA-associated vasculitis that manifests as a pulmonary-renal syndrome with a mild renal manifestation. A 13-year-old girl who has been taking D-penicillamine for five years under the diagnosis of Wilson disease visited the emergency room because of hemoptysis and dyspnea. She had diffuse pulmonary hemorrhage, microscopic hematuria, and proteinuria. Myeloperoxidase ANCA was positive, and a renal biopsy revealed pauci-immune crescentic glomerulonephritis. Under the diagnosis of D-penicillamine-induced ANCA-associated vasculitis, D-penicillamine was switched to trientine...
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
Authors: Mavilia MG, Sharma A, Forouhar F Abstract Cholangiocarcinoma (CC) is the second most common primary hepatic malignancy. Although the frequency of malignancy is generally increased in chronic liver disease, CC rarely presents in Wilson disease (WD). The incidence of hepatic malignancy in WD is only 1.2%, with CC accounting for 0.5%. A 66 year old male with history of hypertension, diabetes, and compensated cryptogenic cirrhosis presented with acute onset dyspnea and pleuritic chest pain. He was incidentally found to have a sizeable mass in the right hepatic lobe. Ultimately, a liver biopsy revealed dense de...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
AbstractIdiopathic copper toxicosis (ICT) is characterized by marked copper deposition, Mallory-Denk body (MDB) formation and severe hepatic injury. Although the characteristics are apparently different from Wilson disease, large amounts of copper accumulate in the liver of the patients. We extensively treated a patient with ICT to reduce the body copper, however, the patient needed liver transplantation. Previous liver biopsy revealed high copper content. But extirpated liver contained an extremely small amount of copper, although MDBs and severe inflammation remained. These phenomena suggest abnormal copper metabolism is...
Source: Medical Molecular Morphology - Category: Molecular Biology Source Type: research
Acute onset neurological symptoms evoked by traumatic, surgical, or emotional events in Wilson disease (WD) have never been reported and its clinical characteristics are unclear. We aimed to summarize the clinical characteristics of a special WD whose neurological symptoms acutely developed after traumatic, surgical, or emotional events. Retrospective pilot study. Thirty-one patients who had acute onset neurological symptom as an initial presentation of WD or a new presentation of hepatic WD after mild trauma, surgery, or emotional events were retrospectively studied. All patients were followed for half to 1 year after ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Authors: Saba L, Tiwari A, Biswas M, Gupta SK, Godia-Cuadrado E, Chaturvedi A, Turk M, Suri HS, Orru S, Sanches JM, Carcassi C, Marinho RT, Asare CK, Khanna NN, B K M, Suri JS Abstract Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analysis, pattern recognition using different computing approaches and fusion possibilities in imaging and genetic dataset are discussed vividly. We categorized this study into three major sec...
Source: Frontiers in Bioscience - Elite - Category: Biomedical Science Tags: Front Biosci (Elite Ed) Source Type: research
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