The challenges of cystinuria in the twenty-first century - a mini review

Abstract

Cystinuria is a rare genetic disorder caused by mutations in the genes that encode the two subunits of amino acid transport, resulting in failure of absorption of filtered dibasic amino acids including cystine in the proximal tubules. Despite new knowledge of the molecular basis of cystinuria, it continues to be one of the most challenging stone diseases. There is no curative treatment of cystinuria, and patients will have lifelong risk of stone formation, repeated surgery, impaired renal function and quality of life. Management of cystinuria requires a multi-modal approach in dedicated centres to improve treatment outcome and patient compliance. Recent developments in cystine crystal growth inhibitors may hold promise for more effective stone prevention in the future.