Cystinuria: an inborn cause of urolithiasis
Abstract Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations.So far, two genes responsible for cystinuria have been i