文献类型：期刊文献

中文题名：NLRP3基因新发变异致新生儿发病的多系统炎症性疾病1例

英文题名：Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novo NLRP3 variant

作者：高富华[1];唐中锋[2];宋佳伟[2];张文博[1];杨磊[3]

第一作者：高富华

机构：[1]甘肃中医药大学第一临床医学院,甘肃兰州730000;[2]甘肃省妇幼保健院产前诊断中心,甘肃兰州730050;[3]甘肃省妇幼保健院超声医学中心,甘肃兰州730050

第一机构：甘肃中医药大学临床医学院

年份：2026

卷号：28

期号：1

起止页码：111

中文期刊名：中国当代儿科杂志

外文期刊名：Chinese Journal of Contemporary Pediatrics

收录：;北大核心:【北大核心2023】；

基金：甘肃省自然科学基金(25JRRA334);兰州市人才创新创业项目(2023-RC-23)。

语种：中文

中文关键词：多系统炎症性疾病;自身炎症性疾病;NLRP3基因变异;新生儿

外文关键词：Multisystem inflammatory disease;Autoinflammatory disease;NLRP3 gene variant;Neonate

摘要：患儿男,生后16 d,因反复发热伴皮疹14 d,抗感染治疗无效入院。临床表现为持续炎症指标升高、多系统(皮肤、神经系统、心脏)受累及特殊面容(前额突出、鼻梁塌陷)。基因检测发现患儿存在NLRP3基因c.2269G>A(p.Gly757Arg)新发杂合可能致病灶变异,结合临床确诊为新生儿发病的多系统炎症性疾病(neonatal-onset multisystem inflammatory disease, NOMID)。产前超声提示静脉导管缺如及双侧侧脑室扩张,该表现拓展了NOMID的产前超声表型谱。该病例提示,对新生儿期出现不明原因发热、皮疹、抗感染无效伴特殊面容者,若存在产前静脉导管或脑室异常,应高度警惕NOMID可能,尽早行基因检测以明确诊断并指导干预。
A 16-day-old male infant was hospitalized because of recurrent fever with rash for 14 days,unresponsive to anti-infective therapy.Clinical features included persistently elevated inflammatory markers,multisystem involvement(skin,nervous system,and heart),and facial dysmorphism(frontal bossing and saddle nose).Genetic testing revealed a de novo heterozygous,likely pathogenic NLRP3 variant(c.2269G>A,p.Gly757Arg).In combination with clinical findings,neonatal-onset multisystem inflammatory disease(NOMID)was diagnosed.Prenatal ultrasonography showed absence of the ductus venosus and bilateral ventriculomegaly,expanding the prenatal sonographic phenotype of NOMID.This case suggests that in neonates with unexplained fever,rash,poor response to anti-infective treatment,and facial dysmorphism,the presence of prenatal ultrasound abnormalities such as absent ductus venosus or ventriculomegaly should raise clinical suspicion for NOMID,and early genetic testing is recommended to confirm the diagnosis and guide intervention.