TY - JOUR JF - MJIRI JO - Med J Islam Repub Iran VL - 18 IS - 4 PY - 2005 Y1 - 2005/11/01 TI - EVALUATION OF LABORATORY FINDINGS IN CHILDREN WITH WILSON'S DISEASE IN EMA M KHOMEINI HOSPITAL DURING 1994-2003 TT - N2 - 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. SP - 327 EP - 330 AU - BAHREMAND, SHAHLA AU - AGHIGHI, YAHYA AU - OLOOMI YAZDI, ZOHREH AU - MOAYERI, HESHMAT AU - RAZAVI, LALEH AU - NATEGHI, MANSOUR AD - The Pediatric Gastroenterology Ward, Emam Khomeini Hospital, Tehran University of Medical Sciences KW - Wilson\'s disease KW - laboratory findings KW - children. UR - http://mjiri.iums.ac.ir/article-1-615-en.html ER -