Cystinuria: An Overview of Diagnosis and Medical Management

Cystinuria is a genetic disorder that causes recurrent nephrolithiasis. It is the most common type of monogenic stone disease accounting for 6%-8% of pediatric nephrolithiasis. Due to recurrent episodes of nephrolithiasis, it is associated with a very high prevalence of chronic kidney disease. Life-long medical treatment to reduce stone formation is critical in preventing chronic kidney disease and renal failure in cystinuria. In this article, we provide an overview of cystinuria with a special emphasis on medical treatment options including new agents such as alpha-lipoic acid.

Cite this article as: Sadiq S, Cil O. Cystinuria: An overview of diagnosis and medical management. Turk Arch Pediatr. 2022;57(4):377-384.