Çukurova Üniversitesi Tıp Fakültesi Dergisi (Jun 2015)
Wilsons Disease: Diagnostic Approach
Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B. In WD, a mutated dysfunctional ATP7B leads to a progressive accumulation of Cu in the liver and brain. Clinically, WND shows considerable phenotypic variability including fulminant hepatic failure, hemolysis, chronic liver disease, such as hepatitis and cirrhosis, and neuro-psychiatric disease with or without hepatic involvement. An 18 -year-old female patient who has the diagnosis of Wilson s disease was referred from outside center for genetic counseling. The mutations p.M1169T was identified in the homozygous form. [Cukurova Med J 2015; 40(2.000): 345-352]
