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Cystinurua in Siblings.

Journal of the Korean Pediatric Society 1990;33(3):351-359.
Published online March 31, 1990.
Cystinurua in Siblings.
Sung Ik Cho, Min Yong Oum, Jae Ock Park, Dong Hwan Lee, Sang Jhoo Lee
Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korea
남매에서 발생한 Cystinuria
조성익, 엄민용, 박재옥, 이동환, 이상주
순천향대학 의학부 소아과학교실
Received: 22 June 1989   • Accepted: 19 September 1989
Abstract
We report cystinuria in siblings. Renal colic, hematuria, dysuria and stone passage were developed in younger brother (4 year 6 month old boy). But the elder sister (6 year old girl) had no specific symptoms nor signs. The identification of the disease was proved by cyanide nitroprusside test and amino acid analysis of urine. In our patients the chromatographic amino acid patterns of urine showed remarkably increased excretion of cystine, ornithine, lysine, and arginine. They are managed by adequate hydration with Shohl solution for rendering the urine more alkaline, and alpha-mercaptopropionylglycine (Thiola®). A review of literatures was also attempted briefly.
Key Words: Cystinuria, Amino acid analysis


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