Treatment of cystinuria

• Published in: Pediatric nephrology (Berlin, West) Vol. 13; no. 9; pp. 945 - 950
• Main Authors: JOLY, D, RIEU, P, MEJEAN, A, GAGNADOUX, M.-F, DAUDON, M, JUNGERS, P
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-11-1999; Springer Nature B.V
• Subjects: Adult; Amino acids; Biological and medical sciences; Chelating Agents - therapeutic use; Child; Creatinine; Crystallization; Cystinuria - diet therapy; Cystinuria - genetics; Cystinuria - prevention & control; Cystinuria - therapy; Humans; Lithotripsy; Medical sciences; Nephrology; Nephrology. Urinary tract diseases; Patients; Pediatrics; Urinary Calculi - diet therapy; Urinary Calculi - genetics; Urinary Calculi - prevention & control; Urinary Calculi - therapy; Urinary lithiasis; Urinary tract diseases; Urine; France; Paris France; Pathogenesis; Tubulopathy; Review; Penicillamine; Enzymopathy; Cystine; Surgery; Genetics; Child; Aminoacid disorder; Human; Kidney disease; Thiol; Urinary system disease; Instrumentation therapy; Metabolic diseases; Urinary tract disease; Alkalinization; Cystinuria; Genetic disease; Urinary stone; Sulfur containing aminoacid; Chemotherapy; Treatment; Lithotripsy; Tiopronin; Aminoaciduria
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s004670050736

Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH. Cystine stones are often resistant to extracorporeal shock wave lithotripsy, so that percutaneous surgery or ureteroscopy are the preferred techniques of stone extraction. Medical preventative treatment is based on high diuresis (>/=1.5 l/m(2) per day) well distributed throughout the day and night, and urine alkalinization up to pH 7.5 by means of sodium bicarbonate and/or potassium citrate. When these basal measures are ineffective at preventing stone recurrence or dissolving pre-existing stones, sulfhydryl agents such as D-penicillamine or tiopronin, which form highly soluble mixed disulfides with cystine moieties, are to be added to urine dilution and alkalinization, especially when cystine excretion is in excess of 750 mg/day (3 mmol/day). Frequent clinical and ultrasound follow-up is needed to encourage patient compliance and assess efficacy and tolerance of treatment.