Cystinuria: a rare diagnosis that should not be missed

Peter KF Chiu, Eddie SY Chan, Simon SM Hou, CF Ng
Department of Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong

Cystinuria is a rare autosomal recessive defect causing recurrent urinary tract stone formation. Morbidity from stone formation and repeated urological interventions can be reduced by early diagnosis and adequate medical treatment. In this review, we illustrate these points by discussing three patients with cystinuria and give a brief review of its management.

Hong Kong Med J 2008;14:399-401

Key words: Cystine; Cystinuria; Treatment outcome; Urinary calculi