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

Background: Nephropathic cystinosis is a rare genetic disease characterized by accumulation of the amino acid cystine in lysosomes throughout the body. Diabetes mellitus remain a major complication of nephropathic cystinosis. Methods: Assessment of glucose metabolic status among sixteen patients with confirmed nephropathic cystinosis aged three years or more using OGTT and HbA1C. Evaluation of pancreatic Ý cell functions using 2-hour postprandial c-peptide values. Results: The study included 16 patients their age ranged from 4 to 21 years. Their age at diagnosis of nephropathic cystinosis ranged from 5 to 96 months. The incidence of abnormal glucose metabolism among our cohort of patients with nephropathic cystinosis was 4 patients (25%). One patient (6.2%) had both impaired fasting glucose (IFG) and IGT; one patient (6.2%) had only impaired glucose tolerance (IGT). Another two patients (12.5%) showed diabetic levels blood glucose during OGTT. Four patients had impaired HbA1C > 6%. Ten patients had elevated 2-hour postprandial c-peptide > 7.1 ng/ml. Conclusion: All patients with nephropathic cystinosis are at risk of developing diabetes mellitus as a complication of CTN during adolescence or adulthood if they are not compliant to treatment, or 10 years after renal transplantation due to steroid and tacrolimus use. Nevertheless, there is a pressing need enhance patient compliance for oral cysteamine and steroid sparing protocol of immunosuppressive drugs and use cyclosporine instead of tacrolimus to improve outcome

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