Enfermedad de wilson pdf 2012 form

Wilsons disease is a rare autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. Liver disease is the most common symptom in children. Wilson s disease wd is characterised by a deleterious accumulation of copper in the liver and brain. Wilsons disease wd is characterised by a deleterious accumulation of copper in the liver and brain.

Wilson disease wd is an inherited genetic disorder of liver copper metabolism with predominant hepatic and neurological manifestations. Wilson disease wd is a recessive autosomal disorder in copper metabolism. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Its early diagnosis has prognostic implications since the treatment can. The diagnosis was supported by indirect methods such as patents ceruloplasmin plasmatic levels and a therapeutic trial, which was followed by. Liver involvement ranges from asymptomatic forms to fulminant hepatic failure or cirrhosis. This affection, where it occurs in an uncomplicated form, is an extrapyramidal motor disease, the. Wilson, nacio en nueva jersey usa en 1878 y murio en 1937. Seleccion del tratamiento clin liver dis 8 2004 787. Wd is relatively rare, occurring in approximately 30 per one million individuals, with lower prevalence rates in north america compared with other parts of the world. It is one of those rare genetic disorders that benefits from effective and lifelong. Given this, coupled with canadas low population density, clinicians in canada. Wilsons disease a case of pure hepatic form of wilsons disease is reported in an eight years old girl. Before the onset of neurological manifestations, cough was the only symptom, suggesting a respiratory dyskinesia as the form of presentation.