Wilson disease and related disorders

Chapter 17 Wilson disease and related disorders





Copper Metabolism (Figs 17.1 and 17.2)
















Pathogenesis










Clinical Features


Patients with WD may be asymptomatic, although most present with hepatic or neurologic manifestations. Clinical symptoms are rarely observed before age 5 years, and most untreated patients become symptomatic by the age of 40 years. In a large series, the initial clinical manifestations were hepatic in 42%, neurologic in 34%, psychiatric in 10%, and hematologic in 12%. A few patients present with WD when they are more than 40 years old, and they normally present with neurologic symptoms that are commonly overlooked. Less commonly, patients present with renal, skeletal, cardiac, ophthalmologic, endocrinologic, or dermatologic symptoms.



Hepatic


Hepatic manifestations tend to occur at a younger age (mean, 10 to 12 years) than neurologic manifestations. Three major patterns may occur: cirrhosis, chronic hepatitis, or fulminant hepatic failure:







Jun 4, 2016 | Posted by in GASTROENTEROLOGY | Comments Off on Wilson disease and related disorders
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