Epidemiology, clinical features, and mortality rate of Wilson disease in Moroccan children: A pediatric case series

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Английский. Background and study aims: Wilson's disease is an autosomal recessive disorder, that affects copper metabo-lism, leading to copper accumulation in the liver, nervous system, and cornea. Data are lacking on the epide-miology, the clinical and laboratory characteristics, treatment, and survival of Wilson's disease in Morocco. The aim of this study was to examine these features and the cause of death in a Moroccan pediatric population.Patients and methods: The study was carried out at the University Hospital Center of Marrakesh, Morocco; 46 children were diagnosed with Wilson's disease from 2008 to 2019. The diagnosis was based on low serum ceruloplasmin, increased urinary copper concentrations, the presence of Kayser-Fleischer rings, a family his-tory of Wilson's disease, and a Leipzig score of >= 4.Results: A total of 42 patients were referred to the center for hepatic or neurological manifestations; four patients were asymptomatic. Consanguineous marriage was found in 67.4% of the cases. The mean duration of illness (42 patients) was 4.9 3.9 years. Kayser-Fleischer rings were found in 60.9% of 46 patients. Of the 42 symptomatic patients: 28 of 30 (93.3%) patients had low serum ceruloplasmin (<0.2 g/L), and 24 h urinary copper >100 mg/day was found in 34 of 35 (97.1%) cases. The treatment was established with D-penicilla-mine for 43 of the 46 patients, with zinc acetate for one patient and with zinc sulfate in for one patient, while one patient was not treated. D-penicillamine was discontinued in nine patients because of adverse effects such as thrombocytopenia, neurological deterioration, pancytopenia, severe vomiting and severe hypersensi-tivity. In total 28 patients were clinically and biologically stabilized, two patients experienced vision loss, and 16 patients died (38%). The main cause of death was diagnosis made at an advanced stage of disease and stopping treatment.Conclusion: Wilson's disease is a rare condition associated with treatement efficacy, but late diagnosis and stopping treatment can lead to a high mortality rate.(c) 2022 French Society of Pediatrics.