NLRC4基因变异致自身炎症反应伴婴幼儿小肠结肠炎新生儿期发病1例  

A case of neonatal-onset autoinflammation with infantile enterocolitis caused by a de novoNLRC4 gene variation

作　　者：程萍 孙慧清[1] 余增渊 李明超 李利锋 Cheng Ping;Sun Huiqing;Yu Zengyuan;Li Mingchao;Li Lifeng(Department of Neonatology,Children's Hospital Affiliated to Zhengzhou University(Henan Children's Hospital Zhengzhou Children's Hospital),Zhengzhou 450000,China)

机构地区：[1]郑州大学附属儿童医院(河南省儿童医院、郑州儿童医院)新生儿科,郑州450000

出　　处：《中华围产医学杂志》2022年第12期968-970,共3页Chinese Journal of Perinatal Medicine

基　　金：河南省医学科技攻关项目(2018020656);2021年郑州市名医支持项目(420223)。

摘　　要：本文报道1例NLRC4基因变异导致的新生儿期发病的自身炎症反应伴婴幼儿小肠结肠炎(autoinflammation with infantile enterocolitis,AIFEC)患儿。患儿男,新生儿期发病,表现为反复发热、皮疹、肝脾大和小肠结肠炎,实验室检查显示铁蛋白、C-反应蛋白等升高,并发巨噬细胞活化综合征。抗感染治疗效果差。全外显子组测序提示NLRC4基因c.1021G>C(p.Val341Leu)新发杂合变异,诊断AIFEC。AIFEC罕见,在新生儿期即可发病,可通过全外显子组测序明确诊断,该病目前尚无有效治疗方法。This article reported a case of neonatal-onset autoinflammation with infantile enterocolitis(AIFEC)caused by NLRC4 gene mutation.The boy developed the disease in the neonatal period,presenting with recurrent fever,rash,hepatosplenomegaly and enterocolitis.Laboratory tests showed some indicators including ferritin and C-reactive protein were elevated.His condition was complicated by macrophage activation syndrome and anti-infective treatment was ineffective.High-throughput whole exome sequencing revealed a de novo heterozygous mutation of c.1021G>C(p.Val341Leu)in the NLRC4 gene and AIFEC was confirmed.AIFEC is a rare disease with no effective treatment at present,which can be developed in the neonatal period and diagnosed by whole exome sequencing.

关 键 词：小肠结肠炎 全身炎症反应综合征 钙结合蛋白质类 CARD信号接头蛋白质类 遗传变异 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]