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.

胱氨酸尿是一種導致腎結石的罕見疾病，通常在二十多歲發病。也有患兒在幼兒時發病，表現為急性腎功能衰竭、無尿等。作者報導了一例13歲男病童，雙腎多發性胱氨酸結石，尿胱氨酸明顯升高（981 mg/24 h; 4082 mmol/ 24 h）導致慢性腎功能不全，腎功能3期（肌酐清除率55 ml/min）。此例患兒給予枸櫞酸鉀、乙醯唑胺、卡托普利以及經皮和逆行輸尿管鏡腎結石切除術治療。胱氨酸尿是一種不常見疾病，需要及時診斷、恰當治療和密切隨訪，以避免嚴重併發症。恰當的治療包括鹼化尿液、每日攝入4公升水以避免尿中胱氨酸飽和。