Background and aims Wilson’s disease (WD) is a rare, inherited, genetic disorder of copper metabolism. Our aims to determine common clinical presentations, laboratory findings, diagnostic methods and long term outcome in Egyptian patients.
Methods All medical records, between 2000 and 2010 in the paediatric hepatology department, were reviewed. Detailed follow-up data of the disease had been collected for each patient. Serum ceruloplasmin, liver function tests and other routine laboratory investigations. Slit lamp examination for Kayser Fleisher rings and 24-hour urine for copper before and after penicillamine challenge were done. Percutaneous liver biopsy also was performed in most patients.
Results The most significant hepatic presentation was jaundice and Kayser Flisher rings. The most significant laboratory findings were, copper excretion after challenge with depencillamine (1546.57 ± 99.55 µg/Dl) and decrease of mean ceruloplasmin concentration (13.8 ± 2.38 mg/dl) below 20 ug/dl. There were significant increase of albumin and significant improvement of prothrombin time after treatment.
Conclusion Kayser Flisher rings, urinary copper excretion and low serum ceruloplasmin were considered sufficient to establish the diagnosis of WD. Liver biopsy may be needed for confirmation of the diagnosis and to assess the extent and severity of the disease.