Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background: In patients with cystinosis, bone impairment appears to be a novel complication of nephropathiccystinosis and many bone manifestations of cystinosis have been reported, including osteopenia and fractures, renal osteodystrophy, short stature and hypophosphatemic rickets. Methods: Eighteen cystinosis patients their age ranged from 0.8 to 10.6 years have been included in the study. Patients have been recruited from cystinosis clinic, AboElrish children's hospital, Cairo university. plain x ray on both LL,skull,spine,left hand was performed to all patients and laboratory assessment includedPTH hormone and active vitamin D. Results: our patients displayed significant bone findingss. The bone changes noted in plain x ray consist of osteopenia osteosclerosis, fractures, deformities, signs active rickets and delaye bone age. mean level of 1, 25 dihydroxycholecalciferol was below the normal range,while PTH level was with high mean level above the normal range.There was statistically significant difference between different stages of CKD as regards bone age and radiological findingss suggestive of rachitic manifestations with p value(0.002, 0.003 respectively).There was no significant difference between those with vitamin D deficiency, Insufficiency and sufficiency according to different radiological findingss.There was no significant difference between those with normal, low and high PTH concerning different radiological findingss

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