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.
Urology case reports. 2020 Oct 28*** epublish ***
Tomoki Okada, Kazumi Taguchi, Taiki Kato, Shinichi Sakamoto, Tomohiko Ichikawa, Takahiro Yasui
Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan., Department of Urology, Graduate School of Medicine, Chiba University, Chiba, Japan.