Hong Kong Med J 2008;14:399-401 | Number 5, October 2008
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.
Key words: Cystine; Cystinuria; Treatment outcome; Urinary calculi
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