남매에서 발생한 Cystinuria

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 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).