Date de publication: 2022
Background and study aims :
Wilsonʼs disease is an autosomal recessive disorder, that affects copper metabolism, leading to copper accumulation in the liver, nervous system, and cornea. Data are lacking on the epidemiology, the clinical and laboratory characteristics, treatment, and survival of Wilsonʼs 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 Wilsonʼs 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 history of Wilsonʼs disease, and a Leipzig score of ≥ 4.
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 μg/day was found in 34 of 35 (97.1%) cases. The treatment was established with D-penicillamine 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 hypersensitivity. 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.
Wilsonʼs disease is a rare condition associated with treatement efficacy, but late diagnosis and stopping treatment can lead to a high mortality rate.