CAJ | 학술논문

目的探讨新生儿慢性肉芽肿病(CGD)的临床特征及基因表型,为早诊断、早治疗、预防再次感染以及改善患儿预后提供依据.方法回顾性分析首都医科大学附属北京儿童医院2013年1月至12月收治的6例新生儿期CGD,总结其临床特点、辅助检查结果及基因表型特点.结果 6例患儿均为男性,平均起病日龄为出生后19 d.首发症状:6例发热、咳嗽,3例皮疹.6例呼吸爆发试验阳性.影像学均表现为肺内大小不等结节影.6例患儿均存在CYBB基因突变,其中氨基酸突变4例,剪切点消失1例,移码突变1例.6例患儿白细胞升高,以中性粒细胞为主;5例完善免疫球蛋白系列结果,未见明显异常.所有患儿均予抗生素及抗真菌药物治疗,患儿好转出院.对6例患儿进行电话随访1年,5例遵医嘱预防用药的患儿均存活,且生长发育良好.1例患儿未遵嘱预防用药,于出生后5个月因严重感染导致多脏器衰竭死亡.结论新生儿期有发热、咳嗽表现,肺部胸片及CT可见真菌感染或金黄色葡萄球菌感染的典型大小不等弥散性结节状、大片状高密度影,应高度重视CGD可能.对于诊断为新生儿CGD的患儿,应规律预防性应用抗生素及抗真菌药物,以改善患儿预后.
목적 탐토신생인만성육아종병(CGD)적림상특정급기인표형,위조진단、조치료、예방재차감염이급개선환인예후제공의거.방법 회고성분석수도의과대학부속북경인동의원2013년1월지12월수치적6례신생인기CGD,총결기림상특점、보조검사결과급기인표형특점.결과 6례환인균위남성,평균기병일령위출생후19 d.수발증상:6례발열、해수,3례피진.6례호흡폭발시험양성.영상학균표현위폐내대소불등결절영.6례환인균존재CYBB기인돌변,기중안기산돌변4례,전절점소실1례,이마돌변1례.6례환인백세포승고,이중성립세포위주;5례완선면역구단백계렬결과,미견명현이상.소유환인균여항생소급항진균약물치료,환인호전출원.대6례환인진행전화수방1년,5례준의촉예방용약적환인균존활,차생장발육량호.1례환인미준촉예방용약,우출생후5개월인엄중감염도치다장기쇠갈사망.결론 신생인기유발열、해수표현,폐부흉편급CT가견진균감염혹금황색포도구균감염적전형대소불등미산성결절상、대편상고밀도영,응고도중시CGD가능.대우진단위신생인CGD적환인,응규률예방성응용항생소급항진균약물,이개선환인예후.
Objective To determine the clinical features and gene expression of neonatal chronic granulomatous disease(CGD) in newborns,in order to provide the evidence for early diagnosis,treatment and infection prophylaxis and so as to improve prognosis.Methods The clinical data of 6 neonates with CGD who hospitalized in Beijing Children's Hospital,Capital University of Medical Sciences,from Jan.to Dec.2013 were retrospectively analyzed,to summarize their clinical features and gene expression.Results All patients were male,mean age of onset in 6 patients was 19 days old.Six patients were onset with cough and fever,3 cases with skin abscesses.All patients had special lung images and their respiratory burst test were all positive.Six patients were all X-linked recessive heredity with mutation in CYBB gene,4 cases carried missense mutation,1 case carried frameshit mutation,1 case had shear point disappear.All patients were improved during hospitalization with anti-infective therapy including antifungal and antibiotic drugs.After their discharge,the patients were followed up for 1 year,among them 5 patients taking antibiotics according to doctor's advise hadn't got any severe infections or other complications,1 patient did not receive antibiotics according to doctor's advise,caught respiratory infection was occured once per 1-2 months and died of multiple organ failure in 5 months due to severe infection.Conclusions For newborn with respiratory symptoms such as cough and fever,with apparently nodular and massive radiologic infiltrates,CGD cases should be highly suspected.Long term prognosis is good in children with prophylactic medication and they may have a longer infection interval.