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

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.