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Cystinuria Revisited: Presentations with Calcium-Containing Stones Demands Vigilance and Screening in the Stone Clinic

Sarah J Rice, David T Thwaites, Jan Halbritter and John A Sayer

Abstract : Cystinuria is an inherited disorder resulting in urinary wasting of dibasic amino acids and often the formation of cystine stones. Cystinuria is often complicated by frequently recurring cystine stones which can form staghorn calculi. The clinical features of cystinuria can be extremely variable leading to missed or delayed diagnosis. Indeed, cystinuria may present with “idiopathic” nephrolithiasis and even calcium containing stones and patients presenting with calculi should be screened for this disorder to allow for appropriate medical and surgical management.