Abstract:

Cystinuria is an autosomal recessive disorder caused by mutations in the SLC3A1 or SLC7A9 genes, leading to functional defects in the renal tubular b^0,+ amino acid transporter, and is clinically characterized by early-onset and highly recurrent urolithiasis. Currently, clinical diagnosis primarily relies on urinalysis, stone analysis, imaging modalities, and genetic testing. First-line interventions include hyperhydration, urine alkalinization, and dietary restrictions, supplemented by thiol-based drugs as a second-line therapy to prevent stone formation. However, traditional interventions face significant limitations, such as poor pediatric adherence and pronounced adverse drug reactions. Consequently, recent therapeutic strategies for this disease have gradually shifted toward precision intervention. Novel pharmacological agents, such as L-cystine analog-based crystallization inhibitors and α-lipoic acid, have demonstrated promising therapeutic potential. Furthermore, targeted gene repair therapies utilizing adeno-associated virus 9 or piggyBac as delivery vectors have been preliminarily shown to effectively reduce stone burden in animal models. This review summarizes the pathogenesis and current clinical management of cystinuria, and objectively evaluates the prospects of novel therapies and genetic interventions, aiming to provide a theoretical reference for the optimized clinical management of this disease.

Key words: cystinuria, pathogenesis, therapeutic advances, gene therapy, animal models