Journal of the Korean Pediatric Society 1995;38(2):245-251.
Published online February 15, 1995.
Cystinuria 3 Cases
Ji Eun Choi3, Bo Young Yun3, Hae Won Park3, Jae Hong Park3, Il Sue Ha3, Hae Il Jeong3, Yong Choi3, Hwang Choi2, In Won 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
시스틴뇨증 3례
최지은3, 윤보영3, 박혜원3, 박재홍3, 하일수3, 정해일3, 최용3, 최황2, 김인원1
1서울대학교 의과대학 방사선과학교실
2서울대학교 의과대학 비뇨기과학교실
3서울대학교 의과대학 소아과학교실
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.
Key Words: Cystinuria, Amino aciduria, Renal stone


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