Division of Pediatric Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, USA.
Pediatr Nephrol. 2012 Nov;27(11):2031-2038. doi: 10.1007/s00467-011-2092-6. Epub 2012 Jan 27.
Cystinuria is a relatively uncommon cause of pediatric stone disease, but has significant morbidity if not properly controlled because of its significant stone recurrence rate. Cystinuria is caused by the inability of the renal tubules to reabsorb filtered cystine, which is poorly soluble at a typical urine pH <7. Although many advances have been made in the understanding of the genetic and physiological basis of cystinuria, the cornerstones of treatment still involve stone prevention with dietary measures and pharmacological therapy, coupled with surgical interventions for stone removal. Pharmacological treatments can carry significant side effects that must be monitored and can limit therapy as well as impede compliance. Most patients will require surgical intervention for stone removal, although compliance with prevention strategies reduces the need for intervention.
胱氨酸尿症是儿童结石病的一个相对少见的病因，但如果得不到适当控制，其结石复发率很高，会导致严重的发病率。胱氨酸尿症是由于肾脏小管无法重吸收滤过的胱氨酸所致，在典型的尿 pH 值<7 时，胱氨酸的溶解度较低。尽管在理解胱氨酸尿症的遗传和生理基础方面已经取得了许多进展，但治疗的基石仍然包括通过饮食措施和药物治疗进行结石预防，以及进行手术干预以去除结石。药物治疗可能会带来严重的副作用，必须进行监测，这可能会限制治疗并影响患者的依从性。大多数患者需要进行手术干预以去除结石，尽管遵守预防策略可以减少干预的需求。
