PERINATOLOGIYA I PEDIATRIYA.2013.3(55):70–73;doi10.15574/PP.2013.55.70

Clinical variants of the hepatic form of Wilson's disease in children

Denysova M. F., Donde S. M., Dyba M. B., Muzyka N. N., Reminnaya N. T., Chernega N. V.

SI «Institute of Pediatrics, Obstetrics and Gynecology, NAMS of Ukraine», Kiev, Ukraine

The aim — to explore the clinical and paraclinical features of Wilson's disease, depending on the age of the children and the form of the disease.

Patients and methods. Primarily 24 children with Wilson's disease at the age of 3–18 years were examined. In addition to general clinical methods of examination, was determined the concentration of ceruloplasmin in the blood serum and the rate of daily copper excretion in the urine of all the patients. They also had ultrasound of the abdominal cavity and retroperitoneal space, ophthalmologist checkup with a slit lamp and advisory of the neurologist.

Outcomes. All the children at admission had clinical laboratory characters (signs) of liver disease, of whom 12 were diagnosed with hepatitis B, 12 — cirrhosis of the liver. According to the data obtained, Wilson's disease in children for a long time was latent, and was clinically characterized in the initial period mainly by signs of liver damage, absence of Kayser—Fleischer ring and neurological symptoms, making it difficult to diagnose it.

Conclusion. The use of laboratory tests (the concentration of copper in daily urine, the concentration of ceruloplasmin in the blood cerum), advisory of the ophthalmologist and neurologist allowed to determine early the diagnosis of the Wilson's disease, to assign an adequate course of treatment. We consider it necessary to recommend the study of copper metabolism indices in all children with unknown etiology of chronic hepatitis B for early detection of Wilson's disease, secondary prevention of cirrhosis of the liver, improvement of the quality of life of patients.

Key words: children, Wilson's disease, hepatitis, cirrhosis.

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