新生儿发病的多系统炎症性疾病一例并文献复习  

Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature

作　　者：管娜[1] 李波[1] 吴晔[1] 

机构地区：[1]北京大学第一医院儿科,100034

出　　处：《中华儿科杂志》2014年第12期932-936,共5页Chinese Journal of Pediatrics

基　　金：教育部新世纪优秀人才支持计划（NCET-12-0006）

摘　　要：目的 探讨新生儿发病的多系统炎症性疾病（NOMID）的诊断和治疗.方法 分析2013年11月来北京大学第一医院就诊的1例患儿的临床诊治过程,对该患儿进行皮肤活检、NLRP3基因检测和血清白细胞介素1β检测.检索CNKI、万方、PubMed数据库从建库至2013年11月,以“自身炎症性疾病”“新生儿发病的多系统炎症性疾病”“慢性婴儿神经皮肤关节综合征”或“Neonatalonset multisystem inflammatory disease”“chronic infantile neurologic cutaneous and articular syndrome”为检索词,选取文中报道5例以上患者的文献以及临床资料完整者,对文献报道的患者临床特点进行总结.结果 患儿男,1岁,生后第2天出现荨麻疹持续,伴有反复发热、无菌性脑膜炎、关节症状、身材矮小、听力下降和眼底异常,外周血白细胞明显增多,C反应蛋白增高,头颅MRI提示脑室扩大,脑白质发育落后.皮肤活检显示荨麻疹.基因检测显示NLRP3基因外显子4存在T1702T/A,该突变导致Phe568lle.血清白细胞介素1β水平显著增高.抗生素、抗过敏治疗无效,予以激素治疗后体温恢复正常,皮疹减轻,脑脊液细胞数无改善.检索文献,总结报道5例以上患者的文献8篇,对其中报道的148例患者分析显示,发热、荨麻疹、无菌性脑膜炎和关节病变是NOMID较常见的表现,NLRP3基因测序检出突变者占57％（69/122）.结论 本例为国内罕见的关于儿童NOMID的报道,发热、荨麻疹、无菌性脑膜炎、关节症状和炎症指标的持续增高是其特点,基因检测和血清白细胞介素1β检测有助于诊断.Objective Neonatal-onset multisystem inflammatory disease （NOMID） is not widely recognized in China.This study aimed to investigate the diagnosis and treatment of NOMID.Method To analyze the clinical characteristics and laboratory results including skin biopsy,gene analysis and serum interleukin 1β of a boy admitted to Peking University First Hospital in November of 2013.Reports on NOMID were searched and the clinical and laboratory characteristics of reported cases were summarized.Result The patient was a 1-year-old boy.He had urticaria since 2 days after birth,and presented with episodes of fever,aseptic meningitis,symptoms of joints,short statue,hearing loss,abnormal fundus findings,and leucocytosis,high level of c-reactive protein （CRP） and abnormal findings of head MRI including ventriculomegaly and white matter dysplasia.Urticaria was confirmed by skin biopsy.Gene analysis showed T1702T/A in exon 4 of NLRP3 gene,which causes Phe568lle.Serum interleukin 1β increased dramatically.The boy was diagnosed as NOMID.He did not respond to antibiotic therapy and antiallergy therapy.Corticosteroid therapy induced normalization of body temperature,and alleviation of rash,but not improvement in cerebrospinal fluid cell numbers.After searching reports of NOMID at PubMed,and Chinese literature published before November 2013,we summarized cases from 8 reports and reviewed 148 cases.The results showed that fever,urticaria,meningitis and arthropathy are the most common manifestations of NOMID,only 57％ （69/122） of patients had mutation of NLRP3.Conclusion This is a rare report of NOMID in children in China.Fever,urticaria,aseptic meningitis and persistently high level of CRP are characteristics of NOMID.Gene analysis and serum interleukin-1β detection can aid in diagnosis.

关 键 词：Cryopyrin相关周期性综合征 白细胞介素1 诊断 

分 类 号：R722.1[医药卫生—儿科]