Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with mutations in the SLC3A1 and SLC7A9 genes. In Mar, 2017, Saeedeh Fazaeli, Saeideh Ashouri and others published an article in << Iranian Journal Kidney Disease >> which title is “A Novel Mutation in SLC7A9 Gene in Cystinuria”,reported a case about the mutation in SLC7A9 gene in cystinuria. Despite the population-specific distribution of mutations in the SLC7A9 genes, there are few genetic data reported for cystinuric patients from the Middle East.
Read More