Cystinuria

Cystinuria is an inherited disorder affecting the normal reabsorption of cystine from renal tubular fluid.  In affected individuals, the resulting high levels of urinary cystine lead to recurrent cystine kidney stone formation.  A research team headed by Dr. Paul Goodyer and Dr. Rima Rozen is funded by the Kidney Foundation of Canada and the Réseau de Médicine Genetique Appliquée to investigate the nature of the genes involved in cystinuria and the relative risk of kidney stone formation in various cystinuria subtypes.