الفهرس 
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Abstract
Mucopolysaccharidosis is a genetic, progressive and clinically heterogeneous disorder that usually involves multiple body systems due to the deficiency of one of the enzymes that play a role in the metabolism of glycosaminoglycans (GAGS), which accumulates in the lysosomes of multiple organs.
This work aimed at long term follow up and assessment of clinical, laboratory and radiological outcomes of ERT in children enzymatically and genetically diagnosed with MPS and attending Alexandria University Children Hospital at different age group. The main objective of the study was to increase awareness about MPS and long term efficacy of their ERT, so provide early diagnosis, improve treatment outcome, care and genetic counseling of children and adolescents with MPS at Alexandria University Children’s Hospital.
The study was conducted on forty-five MPS patients of different types. The most prevalent MPS type in the study was MPS II. With exclusion of MPS II patients (as all are males), female patients represented 54.8% while male patients represented 45.2 % of the rest of AR types of MPS. Age of the studied patients ranged from one and half to eighteen years with mean 9.67 ± 4.17 years at initial assessment. More than half of the cases were from rural areas. Consanguineous marriage of the parents was present on 66.7% of the cases and positive family history was present in 55.6% of the cases. Reported age of start of clinical manifestations ranged from 1 month to six years old, age of diagnosis ranged from 2 months to sixteen years and age of start of ERT ranged from 6 months to seventeen years.
Different mutation variants were detected in each gene corresponding to each MPS type. Those variants differed from other variants detected in other studies done for different populations and this is mostly attributed to ethnic, environmental, and demographic differences between different populations.