成人腺苷脱氨酶2缺乏症并发神经系统损害的临床特征分析  

Clinical features of adult deficiency of adenosine deaminase 2 with neurological impairment

作　　者：岳增昌 钟林清 张家永 林琳 魏礼瑶 郑建明 Yue Zengchang;Zhong Linqing;Zhang Jiayong;Lin Lin;Wei Liyao;Zheng Jianming(Department of Neurology,Mindong Hospital Affiliated to Fujian Medical University,Fuan 355000,China;Department of Rheumatology and Immunology,Mindong Hospital Affiliated to Fujian Medical University,Fuan 355000,China)

机构地区：[1]福建医科大学附属闽东医院神经内科,福安355000 [2]福建医科大学附属闽东医院风湿免疫科,福安355000

出　　处：《中华神经科杂志》2024年第7期770-776,共7页Chinese Journal of Neurology

基　　金：福建省自然科学基金(2022J011522)。

摘　　要：目的分析成人腺苷脱氨酶2缺乏症(DADA2)并发神经系统损害的临床特征。方法回顾性分析2023年9月18日就诊于福建医科大学附属闽东医院神经内科的1例并发神经系统损害的成人DADA2患者的临床资料。在Pubmed、中国知网及万方数据库中检索与伴神经系统受累的成人DADA2相关的临床研究或病例报道,总结成人DADA2并发神经系统损害的临床特征。同时收集相同研究队列中伴神经系统受累的DADA2患儿的临床资料,对比分析成人DADA2和儿童DADA2临床特征的差异。结果本例患者为男性,30岁,主要表现为皮肤网状青斑、卒中发作和痉挛性截瘫。基因检测示腺苷脱氨酶2(ADA2)基因复合杂合突变,头颅磁共振成像示右丘脑和侧脑室旁腔隙性梗死灶、肥大性下橄榄核变性。文献复习发现迄今共报道22例(含本例)成人DADA2并发神经系统损害患者,发病年龄为25(19,29)岁,卒中是该疾病患者神经系统受累的最主要特征(17/22,77.3%),其次是脑神经(7/22,31.8%)和肢体神经损害(8/22,36.4%)。经予肿瘤坏死因子(TNF)抑制剂等治疗,17/20的患者病情稳定或好转。与并发神经系统损害的儿童DADA2患者相比,成人DADA2患者的发热[12/22(54.5%)比48/59(81.4%)]、关节炎[6/22(27.3%)比34/59(57.6%)]、血液学异常[4/22(18.2%)比28/60(46.7%)]的发生率明显减少(χ^(2)=5.998、5.907、5.489),差异均有统计学意义(均P<0.05)。结论并发神经系统损害的成人DADA2一般于成年早期起病,主要表现为卒中,也可伴有周围神经损害。成年患者全身症状较儿童少见,及时予TNF抑制剂治疗后结局较好。Objective To analyze the clinical features of adult deficiency of adenosine deaminase 2(DADA2)with neurological impairment.Methods The clinical data of an adult DADA2 patient with concurrent neurological damage who visited the Department of Neurology,Mindong Hospital Affiliated to Fujian Medical University on September 18,2023 were retrospectively analyzed.The clinical studies or case reports related to adult DADA2 with nervous system involvement from Pubmed,CNKI,and Wanfang databases were retrieved,and the clinical characteristics of adult DADA2 with neurological damage were summarized.The clinical data of children with nervous system involvement in the same study cohorts were also collected,and the clinical features of DADA2 between adults and children were compared.Results The patient was a 30-year-old male,mainly presenting with manifestations of livedo reticularis,stroke and spastic paraplegia.Genetic testing showed a compound heterozygous mutation in the adenosine deaminase 2(ADA2)gene,and brain MRI showed lacunar infarcts in the right basal ganglia and thalamus,hypertrophic inferior olivary degeneration.The literature review found that a total of 22 adult DADA2 patients with neurological damage have been reported,with a onset age of 25(19,29)years.Stroke was the most common feature of neurological involvement in patients with this disease(17/22,77.3%),followed by cranial nerve damage(7/22,31.8%)and limb nerve damage(8/22,36.4%).After the treatment with tumor necrosis factor(TNF)inhibitors,the condition of 17/20 patients remained stable or improved.Compared with pediatric DADA2 patients with concurrent neurological damage,the incidence of fever[12/22(54.5%)vs 48/59(81.4%)],arthritis[6/22(27.3%)vs 34/59(57.6%)],and hematological abnormalities[4/22(18.2%)vs 28/60(46.7%)]in adult DADA2 patients was significantly reduced,and the difference was statistically significant(χ^(2)=5.998,5.907,5.489,respectively,all P<0.05).Conclusions Adult DADA2 with concurrent neurological damage generally onset in early adulthood

关 键 词：腺苷脱氨酶2缺乏症 神经系统表现 网状青斑 卒中 

分 类 号：R747.9[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]