Lysosomal Storage Disorders in Egyptian Children

作者：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

来源：Indian Journal of Pediatrics, 2016, 83(8): 805-813.

DOI：10.1007/s12098-015-2014-x

• Inborn errors of metabolism
• Lysosomal storage disorders
• Enzymatic diagnosis
• Tandemmass spectrometry
• Genetic testing
• Egyptian children

Objective To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt.
Methods 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.
Results 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).
Conclusions 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.

• 出版日期2016-8