Affected individuals have impaired reabsorption of cystine in the proximal tubule. Excessive urinary cystine excretion leads to cystine nephrolithiasis. Cystine stones constitute approximately 1%-2% of all nephrolithiasis, but have higher prevalence in pediatric stone formers.
For more information, see OMIM.
E72.01 – Cystinuria
85020001 – Cystinuria