Chiu Peter K F, Chan Eddie S Y, Hou Simon S M, Ng C F
Department of Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong.
Hong Kong Med J. 2008 Oct;14(5):399-401.
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.
胱氨酸尿症是一种罕见的常染色体隐性缺陷病，可导致复发性尿路结石形成。通过早期诊断和充分的医学治疗，可以降低结石形成及反复进行泌尿外科干预带来的发病率。在本综述中，我们通过讨论三名胱氨酸尿症患者来说明这些要点，并对其治疗方法进行简要综述。
