Wilson's disease

Hursitoglu M., Cikrikcioglu M. A., Danalioglu A., TÜKEK T.

CENTRAL EUROPEAN JOURNAL OF MEDICINE, cilt.5, sa.2, ss.145-149, 2010 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 5 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.2478/s11536-010-0004-y
  • Dergi Adı: CENTRAL EUROPEAN JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.145-149
  • Anahtar Kelimeler: Copper metabolism, Kayser-Fleischer rings, Wilson's disease, Chelating agents, Liver transplantation, LIVER-TRANSPLANTATION, COPPER-METABOLISM, PLASMA-EXCHANGE, DIAGNOSIS, EXPERIENCE, FAILURE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.