Cystinuria is an inherited disease characterized by the failure to reabsorb filtered cystine and dibasic amino acids in the proximal tubule that leads to the formation of cystine stones. In this Review, Chillarón and colleagues discuss the genetic mutations that lead to cystinuria, the molecular mechanisms by which some of these mutations may cause the disease, and the current and prospective treatment options for recurrent cystine lithiasis.
- Josep Chillarón
- Mariona Font-Llitjós
- Manuel Palacín
