Wilson Disease and Its Current Problems
نویسندگان
چکیده
منابع مشابه
Wilson disease and its current problems.
Wilson disease is an autosomal recessive disorder characterized by the progressive accumulation of copper in the body. The failure of hepatocytes to excrete copper into bile and the decreased copper incorporation into ceruloplasmin causes the metal to accumulate in the body (1-5). In 1993, Wilson disease gene, ATP7B, was identified by separate groups (6-8). ATP7B encodes a metal-transporting P-...
متن کاملWilson disease: current status and the future.
The focus of this minireview is on the current status and new advances in diagnosis and treatment of Wilson disease, an autosomal recessive disorder of copper metabolism. Molecular diagnostics have improved and complements current biochemical and clinical methods for screening for Wilson disease. Screening for Wilson disease in newborns is feasible and has been tested in limited populations, bu...
متن کاملCurrent state of Wilson disease patients in central Japan.
OBJECTIVE This study evaluated the current state of patients with Wilson disease in central Japan. PATIENTS AND METHODS Between 1999 and 2007, 30 patients were diagnosed as having Wilson disease with an International Diagnostic Score of 4 or more. The phenotypes, genotypes and post-diagnostic courses of these patients were analyzed. RESULTS Twenty-six patients had ATP7B mutations responsibl...
متن کاملCholelithiasis and Wilson disease.
We have studied three children with Wilson disease who had clinical symptoms suggestive of cholecystitis as well as radiologic evidence of gallstones, subsequently proven at the time of laparotomy. The gallstones from the patients with Wilson disease had an appreciably higher content of cholesterol than gallstones from age-matched children with hemolytic disease. Since gallstones may be present...
متن کاملwilson disease and molecular genetic diagnosis
wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2010
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.49.3380