Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone

Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select an operative procedure according to the age of the patient and the size of the stone. We report the case of a 2-year-old boy with cystinuria diagnosed with a large bladder stone and investigate the efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation. Additional genetic analysis for the entire family revealed benefit for the life-span treatment of cystinuria.