中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (12): 1009-1014.DOI: 10.19538/j.ek2025120608

• 专题笔谈 • 上一篇    下一篇

赖氨酸尿性蛋白耐受不良的诊断及营养代谢治疗

  

  1. 1.郑州大学附属儿童医院  河南省儿童医院  郑州儿童医院内分泌遗传代谢科，河南  郑州  450018；2.北京大学第一医院儿童医学中心，北京  102600
  • 出版日期:2025-12-06 发布日期:2026-01-08
  • 通讯作者: 陈永兴，电子信箱：cyx75@126.com
  • 基金资助:
    河南省重点研发专项（251111311300）

Diagnosis and nutritional metabolic therapy of lysinuric protein intolerance

  1. *Department of Endocrinology，Genetics and Metabolism，Children’s Hospital Affiliated to Zhengzhou University，Henan Children’s Hospital，Zhengzhou Children’s Hospital，Zhengzhou  450018，China
  • Online:2025-12-06 Published:2026-01-08

摘要： 赖氨酸尿性蛋白耐受不良是一种罕见的常染色体隐性遗传病，由于SLC7A7基因变异引起，导致肠道及肾脏对赖氨酸、精氨酸和鸟氨酸的转运障碍。赖氨酸尿性蛋白耐受不良既往曾被视为预后良好的尿素循环障碍，但临床研究发现患者表型复杂，导致高氨血症及肝、脑、肺、肾、免疫等多系统损害，低蛋白质饮食、营养支持、代谢干预有效。赖氨酸尿性蛋白耐受不良的发病机制尚未完全明确，仅用尿素循环障碍难以解释，防治并发症也是赖氨酸尿性蛋白耐受不良的研究难点。文章结合国内外研究现状，系统分析了赖氨酸尿性蛋白耐受不良的发病机制、临床特点、诊治进展，以期为改进临床诊治和长期管理策略提供参考。

关键词: 赖氨酸尿性蛋白耐受不良, SLC7A7基因, 尿素循环障碍, 高氨血症

Abstract: Lysinuric protein intolerance（LPI） is a rare autosomal recessive disorder caused by pathogenic variants in the SLC7A7 gene，which impairs the transport of lysine，arginine，and ornithine in the intestine and kidneys. Previously considered as a urea cycle disorder with a favorable prognosis，LPI is now recognized to present with complex phenotypes that lead to hyperammonemia and multi-system damage involving the liver，brain，lungs，kidneys，and immune system. Management strategies such as a low-protein diet，nutritional support，and metabolic interventions have proven beneficial. The pathogenesis of LPI remains incompletely understood and can’t be fully explained solely by urea cycle dysfunction. Preventing and managing complications represent ongoing challenges in LPI research. This review synthesizes current domestic and international studies to systematically analyze the pathogenesis，clinical features，and diagnostic and therapeutic advances in LPI，aiming to provide references for improving clinical diagnosis and treatment and long-term management strategies.

Key words: lysinuric protein intolerance, SLC7A7 gene, urea cycle disorder, hyperammonemia