以噬血细胞综合征起病的赖氨酸尿性蛋白耐受不良1例并文献复习  

A case of lysinuric protein intolerance starting with hemophagocytic syndrome with literature review

作　　者：葛兰兰[1] 陈新 杨艳君[1] Ge Lanlan;Chen Xin;Yang Yanjun(Department of Nephrology and Immunology,Children's Hospital of Hebei Province,Shijiazhuang 050000,China)

机构地区：[1]河北省儿童医院肾脏免疫科,石家庄050000

出　　处：《疑难病杂志》2024年第7期872-873,共2页Chinese Journal of Difficult and Complicated Cases

摘　　要：报道1例以噬血细胞综合征起病的赖氨酸尿性蛋白耐受不良患儿的临床资料,并进行文献复习。Report the clinical data of a patient with lysinuric protein intolerance with hemophagocytic syndrome,and review the literature.

关 键 词：赖氨酸尿性蛋白耐受不良 噬血细胞综合征 SLC7A7基因 诊断 治疗 

分 类 号：R725.9[医药卫生—儿科]