All issues > Volume 38(2); 1995

Case Report

J Korean Pediatr Soc. 1995;38(2):245-251. Published online February 15, 1995.

Cystinuria 3 Cases

Ji Eun JE Choi³, Bo Young BY Yun³, Hae Won HW Park³, Jae Hong JH Park³, Il Sue IS Ha³, Hae Il HI Jeong³, Yong Y Choi³, Hwang H Choi², In Won IW Kim¹

¹Department of Radiology, Seoul National University College of Medicine, Seoul, Korea
²Department of Urology, Seoul National University College of Medicine, Seoul, Korea
³Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Abstract

We report three cases of cystinuria, presenting with urinary stones. A 2-year-old girl presented with urinary difficulty, hematuria, dysuria of sudden onset, and her 7-month-old younger brother also was presented with urinary difficulty, irritability on urination & stone passage. Other 6-month-old boy was admitted due to sudden onset anuria. They had radioopague renal & ureter stones and stone analysis revealed mixed cystine stones. The diagnosis of cystinuria was confirmed metabolic studies and stone analysis. Lrinary amino acid analysis showed excessive excretion of dibasic amino acids(cystine, ornithine, lysine, arginine). And they all had hypercalciuria and hyperuricosuria. They were treated with combination of percutaneous lithotripsy for large obstructing senes a nd an oral drug therapy with sodium bicarbonate for rendering the urine more alkaline, and alpha-mercaptopropionylglycine(ThiolaR). This form of treatment was sucessful in our three cases with elimination of recurrent nephrolithiasis, but in one patient, nephrotic syndrome possibly caused by ThiolaR was developed. The nephrotic syndrome was recovered spontaneously after cessation of Thiola. A review of literatures was also attempted briefly.

Keywords :Cystinuria, Amino aciduria, Renal stone