Wilson s Disease: Diagnostic Approach

24051

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.

345

Wilson’s disease , liver , neuropsychiatric symptoms , mutations , genetic counseling

Cukurova Medical Journal

352

Cukurova Medical Journal