赖氨酸尿性蛋白耐受不良肠内营养支持治疗一例

Enteral nutrition support for lysinuric protein intolerance:a case report

赖氨酸尿性蛋白耐受不良(lysinuric protein intolerance,LPI)是一种常染色体隐性遗传疾病,由阳离子氨基酸、赖氨酸、精氨酸和鸟氨酸的质膜转运缺陷引起。LPI表现为反复呕吐和腹泻,进食富含蛋白质的食物后出现昏迷,进食不良,厌恶富含蛋白质的食物,进而导致营养不良,甚至死亡,一些患有LPI的儿童还出现肺泡蛋白沉积症。医学营养支持治疗是治疗中的重要环节。该文报告1例确诊赖氨酸尿性蛋白耐受不良、肺泡蛋白沉积症、系统性红斑狼疮和细胞免疫功能障碍4岁患儿的营养支持疗法,其营养状况得到改善;文中回顾了相关文献,以期为赖氨酸尿性蛋白耐受不良的营养诊治提供参考。

Lysinuric protein intolerance(LPI)is an autosomal recessive disorder caused by defective plasma membrane transport of cationic amino acids(lysine,arginine,and ornithine).LPI is characterized by recurrent vomiting and diarrhea,coma following intake of protein-rich foods,and aversion to high-protein foods,further leading to malnutrition and even death.Some children with LPI also develop alveolar proteinosis.Nutrition support is an important part of treatment.Here we report a case of a 4-year-old girl with LPI,alveolar proteinosis,systemic lupus erythematosus,and cellular immune dysfunction,where nutrition support successfully improved her nutritional status.The relevant literatures are reviewed to provide guidance on the nutritional diagnosis and treatment of LPI.