All issues > Volume 24(12); 1981

Original Article

J Korean Pediatr Soc. 1981;24(12):1165-1172. Published online December 15, 1981.

Clinical Assessment on Wilson's Disease.

In Sil Lee, Young Yul Koh, Hyung Ro Moon

¹Department of Pediatrics, College of Medicine, Seoul National University

Abstract

The clinical and laboratory manifestations in ten children with Wilson* s disease are described. The average at onset of symptoms in the eight symptomatic patients was ten years, and male to female ratio was 6 to 4. Kayser-Fleisher rings were present in eight patients. Splenomegaly and hepatomegaly were noted in. four patients and generalized edema was present in six patients. Less frequent symptoms and/or signs included; ascites, jaundice, easy bruising, myalgia and arthralgia. Neurologic symptoms were present in five patients and they had at least one of the followings; dysarthria, poor coordination, psychological impairment, dystonia choreo-athetosis and drooling. The classical abnormalities of copper metabolism； hypoceruloplasminemia, hypercuprinuria and hypocuprinemia were almost always present. Leucopenia and thrombocytopenia were a frequent finding and one had hemolytic anemia. SGOT & SGPT were elevated in all of the patients. Total serum bilirubin was increased in 2 patients. Prolonged prothrombin time was the most typical abnormal liver function test. The Results of liver biopsy in one patient was chronic aggressive hepatits. Minimal proteinuria was present in three and microscopic hematuria in two patients. Urine pH was above 6.0 in all patients examined. The six patients were followed from 1 to 22 months and responded to penicillamine therapy-favor ably. One died of his disease one month after penicillamine therapy.

Keywords :Wilson’s disease;Ceruloplasmin;Hypercuprinuria;Penicillamine