Abbassi N, Bourrahouat A, Bedoya E Couchonnal, Belmalih A, El Hanafi F Z, Bost M, Sedki A, Lachaux A
Laboratory LHEAC, Faculty of Science Semlalia, Cadi Ayyad University, Marrakesh 40000, Morocco; CarMeN Laboratory, INSERM, INRA, INSA Lyon, Claude Bernard Lyon 1 University, Lyon 69921, France.
Padiatric Hospital, CHU Marrakesh, Marrakesh 40080, Morocco; Faculty of Medicine, Cadi Ayyad University, Marrakesh 40000, Morocco.
Arch Pediatr. 2022 Aug;29(6):453-458. doi: 10.1016/j.arcped.2022.03.010. Epub 2022 Jun 12.
Wilson's 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 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.
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 history of Wilson's 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.
Wilson's disease is a rare condition associated with treatement efficacy, but late diagnosis and stopping treatment can lead to a high mortality rate.
威尔逊病是一种常染色体隐性疾病，会影响铜代谢，导致铜在肝脏、神经系统和角膜中蓄积。摩洛哥缺乏关于威尔逊病的流行病学、临床和实验室特征、治疗及生存率的数据。本研究旨在调查摩洛哥儿童群体中的这些特征及死因。
本研究在摩洛哥马拉喀什大学医学中心开展；2008年至2019年期间，46名儿童被诊断为威尔逊病。诊断依据为血清铜蓝蛋白水平低、尿铜浓度升高、存在凯-弗环、威尔逊病家族史以及莱比锡评分≥4分。
共有42名患者因肝脏或神经症状被转诊至该中心；4名患者无症状。67.4%的病例存在近亲结婚情况。42名患者的平均病程为4.9±3.9年。46名患者中，60.9%发现有凯-弗环。在42名有症状的患者中：30名患者中有28名（93.3%）血清铜蓝蛋白水平低（<0.2g/L），35名患者中有34名（97.1%）24小时尿铜>100μg/天。46名患者中有43名采用青霉胺进行治疗，1名患者采用醋酸锌治疗，1名患者采用硫酸锌治疗，1名患者未接受治疗。9名患者因血小板减少、神经功能恶化、全血细胞减少、严重呕吐和严重超敏反应等不良反应而停用青霉胺。共有28名患者在临床和生物学指标上达到稳定，2名患者视力丧失，16名患者死亡（38%）。主要死因是疾病晚期才确诊以及停止治疗。
威尔逊病是一种罕见疾病，与治疗效果相关，但诊断延迟和停止治疗可导致高死亡率。
