EVALUATION OF LABORATORY FINDINGS IN CHILDREN WITH WILSON'S DISEASE IN EMA M KHOMEINI HOSPITAL DURING 1994-2003
Author(s):
Abstract:
Wilson''s disease is a rare but treatable condition with variable clinical presentations. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the clinical and laboratory findings in children with Wilson''s disease (WD). Twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed WD were evaluated between 1994 and 2003 at Imam Khomeini Hospital. Seventeen patients (64%) presented with liver abnormalities, 3(11 %) with neurological features, 3(11 %) with fulminant hepatic failure and 4(14%) were asymptomatic siblings of patients with WD. The presence of Kayser Fleischer rings, high urine copper excretion, low ceruloplasmin level, and elevated liver copper concentration were detected in 51.8%, 77.7%, 92.5% and 72.7% of patients respectively. We emphasize on clinical findings together with one or more laboratory findings as a diagnostic guide in WD and also recommend evaluation of serum ceruloplasmin level and 24 hour urine copper excretion particularly when liver biopsy may not be obtained.
Keywords:
Language:
English
Published:
Medical Journal Of the Islamic Republic of Iran, Volume:18 Issue: 4, Winter 2005
Pages:
327 to 330
https://magiran.com/p1205974
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