Prot-Bertoye Caroline, Daudon Michel, Tostivint Isabelle, Dousseaux Marie-Paule, Defazio Jérôme, Traxer Olivier, Knebelmann Bertrand, Courbebaisse Marie
Service de physiologie - explorations fonctionnelles rénales et métaboliques, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.
Service de physiologie-explorations fonctionnelles, hôpital Tenon, 4, rue de la Chine, 75020 Paris, France.
Nephrol Ther. 2021 Apr;17S:S100-S107. doi: 10.1016/j.nephro.2020.03.001.
Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. A high prevalence of high blood pressure and of chronic kidney disease has been reported in these patients. Alkaline hyperdiuresis remains the cornerstone of the preventive medical treatment. To reach a urine pH between 7.5 and 8 and a urine specific gravity less than or equal to 1.005 should be the goal of medical treatment. D-penicillamine and tiopronin, two cysteine-binding thiol agents, should be considered as second line treatments with frequent adverse events that should be closely monitored.
胱氨酸尿症是最常见的单基因肾结石疾病。由于胱氨酸在典型尿液pH值低于7时溶解度较差，胱氨酸排泄会导致复发性尿胱氨酸结石形成。据报道，这些患者中高血压和慢性肾脏病的患病率较高。碱性利尿仍是预防性医学治疗的基石。使尿液pH值达到7.5至8且尿比重小于或等于1.005应是医学治疗的目标。D-青霉胺和硫普罗宁这两种结合半胱氨酸的巯基药物应被视为二线治疗药物，它们常有不良事件，需密切监测。
