Elmonem Mohamed A, Mahmoud Iman G, Mehaney Dina A, Sharaf Sahar A, Hassan Sawsan A, Orabi Azza, Salem Fadia, Girgis Marian Y, El-Badawy Amira, Abdelwahab Magy, Salah Zeinab, Soliman Neveen A, Hassan Fayza A, Selim Laila A
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Inherited Metabolic Disease Unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.
Indian J Pediatr. 2016 Aug;83(8):805-13. doi: 10.1007/s12098-015-2014-x. Epub 2016 Feb 2.
To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt.
The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically.
Two hundred and eleven children (aged 44 ± 32 mo; 56 % boys, 82 % with consanguineous parents) were confirmed with 21 different lysosomal disorders. The diagnostic gap ranged between 2 mo and 14 y (average 25 mo). Mucopolysaccharidoses were the most common group of diseases diagnosed (44.5 %), while Maroteaux-Lamy, Gaucher and nephropathic cystinosis were the most commonly detected syndromes (17.1, 14.7 and 13.7 %, respectively). Eighty mutant alleles and 17 pathogenic mutations were detected in 48 genetically assessed confirmed patients (30 Gaucher, 16 cystinosis and two Niemann-Pick type C patients).
This report is the first to describe relative frequency and spectrum of clinical and molecular data in a large cohort of Egyptian lysosomal patients. The crude estimate denotes that over 80 % of Egyptian lysosomal patients do not have access to optimal diagnosis. Upgrading diagnostic and genetic services for lysosomal storage disorders in Egypt is absolutely necessary.
描述埃及溶酶体贮积症的谱系、相对患病率及分子背景。
作者评估了在埃及最大的三级儿科专科医院开罗大学儿童医院的遗传代谢病科开展的针对埃及儿童溶酶体贮积症诊断的选择性筛查项目，为期六年（2008年4月至2014年4月）。在此期间，对1065名疑似患儿进行了临床、生化及部分基因检测评估。
211名儿童（年龄44±32个月；56%为男孩，82%父母为近亲结婚）被确诊患有21种不同的溶酶体疾病。诊断间隔时间为2个月至14年（平均25个月）。黏多糖贮积症是诊断出的最常见疾病组（44.5%），而马罗-拉米综合征、戈谢病和肾病型胱氨酸病是最常检测到的综合征（分别为17.1%、14.7%和13.7%）。在48名经基因检测确诊的患者（30名戈谢病患者、16名胱氨酸病患者和2名尼曼-匹克C型患者）中检测到80个突变等位基因和17种致病突变。
本报告首次描述了一大群埃及溶酶体疾病患者的临床和分子数据的相对频率及谱系。粗略估计表明，超过80%的埃及溶酶体疾病患者无法获得最佳诊断。提升埃及溶酶体贮积症的诊断和基因检测服务绝对必要。
