MA Arrabal-Polo, MdC Cano-García, M Arrabal-Martín

Abstract

Cystinuria is a rare cause of stone disease and has a peak age of presentation in the third decade of life. However, it can also present during the first decade of life with acute renal failure, anuria or other symptoms. We present a case of a 13-year-old boy with multiple and bilateral cystine stones and high excretion of cystine in the urine (981 mg/24 h; 4082 μmol/24 h) producing chronic renal insufficiency grade 3 (creatinine clearance 55 ml/min). Medical treatment with potassium citrate, acetazolamide and captopril, and percutaneous nephrolithotomy and retrograde ureteroscopy were chosen for this case. Cystinuria is a rare condition, but when it does occur, timely diagnosis, appropriate treatment and close follow up are important to avoid severe clinical complications. Appropriate treatments include urine alkalinisation, decreasing cystine supersaturation and intake of 4 liters of water per day.