中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2014年
12期
932-936
,共5页
Cryopyrin相关周期性综合征%白细胞介素1%诊断
Cryopyrin相關週期性綜閤徵%白細胞介素1%診斷
Cryopyrin상관주기성종합정%백세포개소1%진단
Cryopyrin-associated periodic syndromes%Interleukin-1%Diagnosis
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.
目的 探討新生兒髮病的多繫統炎癥性疾病(NOMID)的診斷和治療.方法 分析2013年11月來北京大學第一醫院就診的1例患兒的臨床診治過程,對該患兒進行皮膚活檢、NLRP3基因檢測和血清白細胞介素1β檢測.檢索CNKI、萬方、PubMed數據庫從建庫至2013年11月,以“自身炎癥性疾病”“新生兒髮病的多繫統炎癥性疾病”“慢性嬰兒神經皮膚關節綜閤徵”或“Neonatalonset multisystem inflammatory disease”“chronic infantile neurologic cutaneous and articular syndrome”為檢索詞,選取文中報道5例以上患者的文獻以及臨床資料完整者,對文獻報道的患者臨床特點進行總結.結果 患兒男,1歲,生後第2天齣現蕁痳疹持續,伴有反複髮熱、無菌性腦膜炎、關節癥狀、身材矮小、聽力下降和眼底異常,外週血白細胞明顯增多,C反應蛋白增高,頭顱MRI提示腦室擴大,腦白質髮育落後.皮膚活檢顯示蕁痳疹.基因檢測顯示NLRP3基因外顯子4存在T1702T/A,該突變導緻Phe568lle.血清白細胞介素1β水平顯著增高.抗生素、抗過敏治療無效,予以激素治療後體溫恢複正常,皮疹減輕,腦脊液細胞數無改善.檢索文獻,總結報道5例以上患者的文獻8篇,對其中報道的148例患者分析顯示,髮熱、蕁痳疹、無菌性腦膜炎和關節病變是NOMID較常見的錶現,NLRP3基因測序檢齣突變者佔57％(69/122).結論 本例為國內罕見的關于兒童NOMID的報道,髮熱、蕁痳疹、無菌性腦膜炎、關節癥狀和炎癥指標的持續增高是其特點,基因檢測和血清白細胞介素1β檢測有助于診斷.
목적 탐토신생인발병적다계통염증성질병(NOMID)적진단화치료.방법 분석2013년11월래북경대학제일의원취진적1례환인적림상진치과정,대해환인진행피부활검、NLRP3기인검측화혈청백세포개소1β검측.검색CNKI、만방、PubMed수거고종건고지2013년11월,이“자신염증성질병”“신생인발병적다계통염증성질병”“만성영인신경피부관절종합정”혹“Neonatalonset multisystem inflammatory disease”“chronic infantile neurologic cutaneous and articular syndrome”위검색사,선취문중보도5례이상환자적문헌이급림상자료완정자,대문헌보도적환자림상특점진행총결.결과 환인남,1세,생후제2천출현담마진지속,반유반복발열、무균성뇌막염、관절증상、신재왜소、은력하강화안저이상,외주혈백세포명현증다,C반응단백증고,두로MRI제시뇌실확대,뇌백질발육락후.피부활검현시담마진.기인검측현시NLRP3기인외현자4존재T1702T/A,해돌변도치Phe568lle.혈청백세포개소1β수평현저증고.항생소、항과민치료무효,여이격소치료후체온회복정상,피진감경,뇌척액세포수무개선.검색문헌,총결보도5례이상환자적문헌8편,대기중보도적148례환자분석현시,발열、담마진、무균성뇌막염화관절병변시NOMID교상견적표현,NLRP3기인측서검출돌변자점57％(69/122).결론 본례위국내한견적관우인동NOMID적보도,발열、담마진、무균성뇌막염、관절증상화염증지표적지속증고시기특점,기인검측화혈청백세포개소1β검측유조우진단.
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.
