摘要
目的加强国内儿科临床医生对儿童腺苷脱氨酶2(ADA2)缺乏症的认识,促进临床医生对该病的早期识别和诊断。方法分析2014年3月中国医学科学院北京协和医院儿科收治的1例诊断为ADA2缺乏症患儿临床表现、实验室、影像学检查及基因特点,并结合文献进行讨论。结果患儿以反复口腔溃疡、发热起病,逐渐出现网状青斑及神经系统症状,皮肤活检提示微小血栓形成,头颅磁共振成像(MRI)检查提示大脑梗死灶及出血灶,基因检测发现CECR1基因突变,为新发突变。实验室检查外周血ADA明显降低,诊断ADA2缺乏症,予患儿加用钙通道阻滞剂(CCB)及抗凝药物治疗。患儿临床症状好转出院。结论 ADA2缺乏症临床少见,该例为国内首例儿童患者,其基因检测的CECR1突变位点(c.254A>T p.N85I,c.851G>T p.G284V)未有报道,是新发致病突变点。掌握ADA2缺乏症临床特点,有助于提高临床诊治水平。
Objective To strengthen the pediatrians＇ understanding of ADA2 deficiency in children,in order to recognize and diagnose the disease early. Methods To introduces one ADA2 patient＇s clinical manifestations and laboratory,imaging and gene characteristics. Results The child had recurrent oral ulcers and fever at onset,and there was the gradual emergence of livedo reticularis and nervous system symptoms. Skin biopsies suggested microthrombosis;head MRI showed cerebral infarction and hemorrhagic focus;genetic testing showed mutation of the CECR1 gene,which was a novel mutation,and laboratory examination showed a significant decrease in peripheral blood ADA,so she is diagnosed with ADA2 deficiency.The patient was treated with calcium channel blockers（CCB）and anticoagulents which achieved good results. Conclusion ADA2 deficiency is a clinically rare disease. This is the first child case in China. The mutation site（c.254 A〉T p.N85 I,c.851 G〉T p.G284 V）of the gene detected in this case is not reported. It is a new mutation point. Mastering the clinical characteristics of ADA2 deficiency is helpful to improve the level of clinical diagnosis and treatment.
作者
李冀
武跃芳
钟林庆
王薇
宋红梅
LI Ji;WU Yue-fang;ZHONG Lin-qing(Department of Pediatrics,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第10期800-804,共5页
Chinese Journal of Practical Pediatrics
基金
2014年度公益性行业科研专项(201402012)
首都卫生发展科研专项(2016-2-40114)
中国医学科学院医学与健康科技创新工程(2016-I2M-1-008)
中央级公益性科研院所基本科研业务费项目(2016ZX310182-1)
关键词
腺苷脱氨酶2缺乏症
儿童
口腔溃疡
网状青斑
脑梗死
基因检测
adenosine deaminase 2 deficieney, child
oral ulcer
livedo reticularis
cerebral infanction
genetic test
