Article Abstract

Treating the cystine stone former presents a singular clinical challenge

Authors: Thomas Chi, Eric Taylor, Marshall L. Stoller

Abstract

Cystinuria represents a relatively rare hereditary condition leading to impairment of the renal proximal tubule’s dibasic amino acid transporter. The only manifestation of this disease is calculi formation. Unlike other nephrolithiasis disease processes, cystine stone formation is due directly to supersaturation of an insoluble solute precipitating out of the urinary milieu. The genes responsible for this are SLC3A1 and SLC7A9 which encode for the protein heterodimer that is responsible for reabsorption of filtered dibasic amino acids.