Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 1 Issue 1
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- Pages.18-22
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- 2001
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- 2287-4712(pISSN)
Cystinuria in Siblings
남매에서 발생한 Cystinuria
- Lee, Dong Hwan (Department of Pediatrics, College of Medicine, Soon Chun Hyang University)
- 이동환 (순천향대학교 의과대학 소아과학교실)
- Published : 2001.05.01
Abstract
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 and 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).