中国实用儿科杂志2025，Vol.40Issue(12)：1009-1014,6.DOI:10.19538/j.ek2025120608
赖氨酸尿性蛋白耐受不良的诊断及营养代谢治疗
Diagnosis and nutritional metabolic therapy of lysinuric protein intolerance
摘要
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.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Key words
lysinuric protein intolerance/SLC7A7 gene/urea cycle disorder/hyperammonemia分类
医药卫生引用本文复制引用
郝会民,陈永兴,杨艳玲..赖氨酸尿性蛋白耐受不良的诊断及营养代谢治疗[J].中国实用儿科杂志,2025,40(12):1009-1014,6.基金项目
河南省重点研发专项(251111311300) （251111311300）
