Gökçe Mehmet İlker, Karaburun Murat Can
Department of Urology, Ankara University Faculty of Medicine, Altındağ, 06230, Ankara, Turkey.
Department of Urology, Etlik City Hospital, Ankara, Turkey.
World J Urol. 2025 Apr 15;43(1):226. doi: 10.1007/s00345-025-05604-6.
Cystinuria is the predominant hereditary factor leading to kidney stone formation in the pediatric population. The aim of this manuscript is to provide an overview of cystinuria in children.
The authors performed a literature review on studies regarding cystinuria in children. A narrative synthesis for analysis of the studies was used.
Cystine is a homodimeric amino acid formed by the disulfide bonding of two cysteine molecules. The problem with this autosomal recessive condition arises from a malfunction in the process of reabsorption. Cystine filtered from the renal glomerulus cannot be reabsorbed from the proximal tubules. Therefore, due to its extremely low solubility at normal urine pH, it precipitates and causes stone formation. Recurrent stone formation is the most prominent clinical presentation of cystinuria. The patients usually present with a renal colic episode with concomitant nausea and hematuria. The aim of medical treatment is to maintain the solubility of cystine in urine. The main strategies are to increase urine volume and urinary pH. Potassium citrate or potassium bicarbonate can be used to raise the pH of the urine to 7.5 to increase cystine solubility. If the treatment with alkalinization and higher urine output fails, cystine binding agents such as tiopronin and D-penicillamine can be added to the treatment. Surgical management of pediatric patients with cystine stones is similar to that in the adult population. However, cystine stones can be resistant to ESWL. Retrograde ureteroscopy with semirigid and flexible instruments is a good option for ureteral stones and also for renal stones less than 20 mm in diameter. The golden standard option for high-volume stones larger than 20 mm in diameter is percutaneous nephrolithotomy (PCNL).
Cystinuria is the primary hereditary factor contributing to the formation of kidney stones throughout childhood. It is a genetic disorder that typically manifests as recurrent stone formations. The aim of the treatment of genetically caused pediatric stone diseases is to prevent stone formation with medical treatments, remove existing stones through surgical treatments, and mitigate the risk of developing chronic kidney disease in the future.
胱氨酸尿症是导致儿童肾结石形成的主要遗传因素。本文旨在概述儿童胱氨酸尿症。
作者对有关儿童胱氨酸尿症的研究进行了文献综述。采用叙述性综合分析这些研究。
胱氨酸是由两个半胱氨酸分子通过二硫键结合形成的同二聚体氨基酸。这种常染色体隐性疾病的问题源于重吸收过程中的功能障碍。从肾小球滤过的胱氨酸无法从近端小管重吸收。因此，由于其在正常尿液pH值下的溶解度极低，它会沉淀并导致结石形成。复发性结石形成是胱氨酸尿症最突出的临床表现。患者通常表现为肾绞痛发作，并伴有恶心和血尿。药物治疗的目的是维持胱氨酸在尿液中的溶解度。主要策略是增加尿量和尿液pH值。柠檬酸钾或碳酸氢钾可用于将尿液pH值提高到7.5，以增加胱氨酸的溶解度。如果碱化和增加尿量的治疗失败，可以在治疗中添加胱氨酸结合剂，如硫普罗宁和D-青霉胺。儿童胱氨酸结石患者的手术治疗与成人相似。然而，胱氨酸结石可能对体外冲击波碎石术（ESWL）有抵抗性。使用半硬性和软性器械进行逆行输尿管镜检查是治疗输尿管结石以及直径小于20 mm肾结石的良好选择。对于直径大于20 mm的大量结石，金标准选择是经皮肾镜取石术（PCNL）。
胱氨酸尿症是整个儿童期导致肾结石形成的主要遗传因素。它是一种遗传性疾病，通常表现为复发性结石形成。治疗遗传性儿童结石疾病的目的是通过药物治疗预防结石形成，通过手术治疗清除现有结石，并降低未来发生慢性肾病的风险。
