Abstract
To the Editor: Cystinuria is an inherited form of nephrolithiasis caused by mutations in the SLC7A9 1 [solute carrier family 7 (cationic amino acid transporter, y+ system), member 9] and SLC3A1 [solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1] genes, which encode the luminal transporter b(0,+) AT subunit and rBAT subunit, respectively. The disease is characterized by impaired proximal tubular and intestinal reabsorption of cystine and the dibasic amino acids ornithine, lysine, and arginine (1). Treatment of cystinuria aims to prevent new stone formation and consists of increased fluid intake, urine alkalinization, and cystine-binding drugs for avoiding urinary cystine hypersaturation, which occurs …
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call