胱氨酸尿症的诊治进展

doi:10.12372/jcp.2026.25e1679

摘要/Abstract

摘要：

胱氨酸尿症是由SLC3A1或SLC7A9基因变异导致肾小管b^0,+氨基酸转运蛋白功能缺陷的常染色体隐性遗传病，以起病年龄早、高复发性泌尿系结石为典型特征。目前，临床多通过尿液分析、结石分析、影像学与基因检测诊断，并以水化疗法、碱化疗法及饮食限制为一线干预手段，辅以硫醇类药物作为预防结石形成的二线治疗。然而，传统干预手段存在患儿依从性差及药物不良反应明显等局限性。近年来，该病的诊治策略正逐步向精准干预演进。基于L-胱氨酸类似物的结晶抑制剂与α-硫辛酸等新型药物已展现出良好的应用潜力。此外，利用腺相关病毒9或piggyBac作为载体的基因靶向修复治疗已在动物模型中初步证实能有效减轻结石负担。文章梳理了胱氨酸尿症的发病机制与临床诊治现状，并客观分析了新型疗法与基因干预的前景，以期为该病的临床优化管理与进一步研究提供参考。

关键词: 胱氨酸尿症, 发病机制, 诊治进展, 基因治疗, 动物模型

Abstract:

Cystinuria is an autosomal recessive disorder caused by mutations in the SLC3A1 or SLC7A9 genes, leading to functional defects in the renal tubular b^0,+ amino acid transporter, and is clinically characterized by early-onset and highly recurrent urolithiasis. Currently, clinical diagnosis primarily relies on urinalysis, stone analysis, imaging modalities, and genetic testing. First-line interventions include hyperhydration, urine alkalinization, and dietary restrictions, supplemented by thiol-based drugs as a second-line therapy to prevent stone formation. However, traditional interventions face significant limitations, such as poor pediatric adherence and pronounced adverse drug reactions. Consequently, recent therapeutic strategies for this disease have gradually shifted toward precision intervention. Novel pharmacological agents, such as L-cystine analog-based crystallization inhibitors and α-lipoic acid, have demonstrated promising therapeutic potential. Furthermore, targeted gene repair therapies utilizing adeno-associated virus 9 or piggyBac as delivery vectors have been preliminarily shown to effectively reduce stone burden in animal models. This review summarizes the pathogenesis and current clinical management of cystinuria, and objectively evaluates the prospects of novel therapies and genetic interventions, aiming to provide a theoretical reference for the optimized clinical management of this disease.

Key words: cystinuria, pathogenesis, therapeutic advances, gene therapy, animal models

中图分类号:

贾世辰, 徐国锋. 胱氨酸尿症的诊治进展[J]. 临床儿科杂志, 2026, 44(8): 746-752.

JIA Shichen, XU Guofeng. Advances in the diagnosis and treatment of cystinuria[J]. Journal of Clinical Pediatrics, 2026, 44(8): 746-752.

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