Wilson's Disease: Diagnostic Approach


Gelıncık H. , Koc F.

CUKUROVA MEDICAL JOURNAL, cilt.40, ss.345-352, 2015 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 40
  • Basım Tarihi: 2015
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.345-352

Özet

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.