Leslie Stephen W., Sajjad Hussain, Nazzal Lama
Creighton University School of Medicine
RMU and Allied Hospitals
Cystine stones account for only about 1% to 2% of all kidney stones but represent roughly 6% to 8% of all pediatric calculi. Eighty percent of cystinuria patients will have their first stone during their first two decades. The name "cystine" comes from its original description as "bladder calculi" in 1833. Kidney stones are the singular clinical manifestation of this condition. The primary treatment is the optimization of urinary volume and pH with hydration and oral alkalinizing medications. Second-line medical therapy consists of thiol-based drugs and is used in patients where conservative measures alone are insufficient. While most cystine stone formers will make pure cystine stones, up to 40% may develop mixed calculi and contain calcium oxalate, phosphate, or struvite. Compared to calcium stone formers, cystine nephrolithiasis patients will tend to make larger stones, require more urological procedures, make stones more often, and start at an earlier age. They also face a greater risk of eventual kidney damage and chronic renal failure compared to calcium nephrolithiasis patients. Cystinuria patients also report relatively poor health-related quality of life scores due to multiple recurrent stone episodes and related surgical procedures although these scores can be improved with optimized prophylactic therapy.
胱氨酸结石仅占所有肾结石的约1%至2%，但约占所有儿童结石的6%至8%。80%的胱氨酸尿症患者将在最初的二十年里首次出现结石。“胱氨酸”这个名字源于1833年它最初被描述为“膀胱结石”。肾结石是这种疾病唯一的临床表现。主要治疗方法是通过补液和口服碱化药物来优化尿量和尿液pH值。二线药物治疗包括使用硫醇类药物，用于仅采取保守措施不足以治疗的患者。虽然大多数形成胱氨酸结石的患者会形成纯胱氨酸结石，但高达40%的患者可能会形成混合结石，其中含有草酸钙、磷酸盐或鸟粪石。与形成钙结石的患者相比，胱氨酸肾结石患者往往会形成更大的结石，需要更多的泌尿外科手术，结石形成更频繁，且发病年龄更早。与钙肾结石患者相比，他们最终出现肾脏损害和慢性肾衰竭的风险也更高。胱氨酸尿症患者还报告称，由于多次复发性结石发作和相关外科手术，他们的健康相关生活质量得分相对较低，不过通过优化预防性治疗，这些得分可以得到改善。
