Wilson’s disease

• Authors: Mehmet Hursitoglu , Mehmet Cikrikcioglu , Ahmet Danalioglu , Tufan Tukek
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

Copper metabolism; Kayser-Fleischer rings; Wilson’s disease; Chelating agents; Liver transplantation

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2010
• Volume: 5
• Issue: 2
• Pages: 145-149

Dates

published

1 - 4 - 2010

online

17 - 4 - 2010

Contributors

author

Mehmet Hursitoglu

• Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey

author

Mehmet Cikrikcioglu

• Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey

author

Ahmet Danalioglu

• Gastroenterohepatology clinic, Medikal Park Hospital, 34349, Istanbul, Turkey

author

Tufan Tukek

• Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey

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Identifiers

DOI

10.2478/s11536-010-0004-y