Although cystinuria is not the most common form of nephrolitiasis, it
is a particularly unpleasant one since affected individuals begin to f
orm stones in childhood and the rate of stone recurrence is high. In t
his review, we discuss the various approaches to medical management wh
ich have been proposed since the original description of cystinuria in
1910, as well as some new agents with therapeutic potential. We also
consider the recent discoveries concerning the genetic basis of cystin
uria and the possibility that we may soon be able to distinguish cysti
nuria subtypes carrying the highest risk of nephrolithiasis. Surgical
approaches and extracorporeal shockwave lithotripsy are not reviewed h
ere.