الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Cystinuria is an inherited metabolic disorder characterized by excessive amounts of undissolved cystine in the urine, as well as three chemically similar dibasic amino acids : arginine, lysine, and ornithine. Excess cystine in the urine can lead to the formation of crystals and stones (calculi) in the kidney, bladder, and/or urinary tract. Some people with cystinuria do not form stones, while others frequently form stones. This work aims to study the molecular and protein profile of Egyptian children with cystine stones through studying the distribution and frequency of genetic mutations together with investigating the changes in the protein expression. This study involved 40 subjects. Admitted to the urology and nephrology center, Mansoura university. They were divided into two main groups : group I : 20 children healthy volunteers, served as healthy. The mean age of the healthy group was (11.5 y), group II : 20 children patients with cystinuria. The mean age of the patients group was (9.4 y). blood (4-5 mL total) and (24h) urine samples were obtained from Cystinuria patients and healthy group, then start the molecular analysis and biochemical analysis (sanger sequencing of SLC3A1 and SLC7A9 genes, PBX1 gene expression, Real-Time PCR for Detection of mi-RNA and Biochemical analysis. The results shown A novel missense pathogenic mutation g. 44275765 C -> A, ( p.Ser77Tyr(+)) in SLC3A1 was identified in Cystinuric patients. Also, The findings revealed that the probability of cystinuria production has tripled in conjunction with the PBX1, impacting cystine renal absorption and other amino acids, likely vulnerable to development the cystinuria. The expression of hsa-miR-4720-3p and hsa-miR-548 showed no difference between cystinuria patients and healthy group. The results of SLC3A1 and SLC7A9 protein shown significantly down-regulated in cystinuria patients. Glutathione and citric acid concentration shown significant decrease in cystinuric patients. The investigation was only conducted on 20 patients with cystinuria, so future studies needed to evaluate those markers with more patients to diagnose and monitor cystinuria patients.