Objective: to present the current situation with hepatolenticular degeneration (HLD) in children and to study clinical and laboratory manifestations, prevalence and significance of the disease in children with unexplained hepatitis (UH). Key Points. HLD, genetic copper metabolism imbalance, is a serious condition masked by UH. There is practically no information on prevalence of HLD in children; and diagnostic capabilities are still a matter of arguments. We have reviewed literature sources on HLD in children and examined 103 children aged 3 to 16 years diagnosed with UH (follow-up period of 3 to 7 years). Two cases have been discussed in detail. In addition to routine clinical examinations, we have tested copper metabolism in blood and 24-hour urine specimen. Genetic tests were conducted to find АТР7В mutations (12 to 14 alleles were examined). Conclusion. HLD in children is not an uncommon cause of hepatic involvement; it affects 11–12% children with UH. Diagnostics is challenging and achieved with a number of tests such as measurement of copper levels in 24-hour urine specimen and genetic tests for HLD with exclusion of any other known and common causes of hepatic conditions (viral, nonalcoholic fatty liver disease, autoimmune hepatitis, primary sclerosing cholangitis associated with inflamed intestine, etc.). Key aspects in prevention of severe organ failures and death in children with HLD are high awareness and early disease detection with timely therapy initiation and favourable outcome. Of the utmost importance in life-long therapy is compliance associated with the level of education and attention from family members. Keywords: hepatolenticular degeneration, children, diagnosis, therapy, outcomes.
Amino-aciduria and Copper Metabolism in Hepatolenticular Degeneration