缺乏腺苷脱氨酶2是早发性中风和脑神经麻痹的一个未被认识的原因。

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Elif Celikel, Fatma Aydin, Zahide Ekici Tekin, Tuba Kurt, Muge Sezer, Nilufer Tekgoz, Cuneyt Karagol, Serkan Coskun, Melike Mehves Kaplan, Aysegul Nese Citak Kurt, Banu Celikel Acar
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引用次数: 0

摘要

目的:本研究的目的是评估腺苷脱氨酶2缺乏症(DADA2)患者的临床、实验室和影像学表现和预后,并强调DADA2在神经学表现患者的鉴别诊断中应考虑的条件。方法:回顾性、描述性研究了6例DADA2患者。记录患者的临床和实验室资料、治疗方案和预后。通过ADA2酶活性测定和/或ADA2基因测序确定DADA2的诊断。结果:6例DADA2患者纳入研究。出现症状的中位年龄为6.5岁(范围3.5-13.5岁)。从最初表现到诊断的中位时间为9(3-72)个月。4例患者家庭中存在血缘关系。皮肤、神经系统和肌肉骨骼系统是最常见的受累系统。在我们的病例系列中,模拟结节性多动脉炎(PAN)的血管炎是主要表型(n=4)。4例具有pan样特征的患者有神经系统受累。缺血性脑卒中3例,脑神经麻痹2例,癫痫发作2例。分析所有患者的CECR1基因。我们只分析了一名患者的血浆ADA2酶活性。开始抗肿瘤坏死因子(TNF)-α治疗。所有患者的炎症均得到抑制和缓解。结论:在PAN样疾病、家族性PAN/血管炎病史、早发性卒中/神经系统累及全身性炎症的患者中应考虑DADA2。此外,抗tnf -α治疗似乎对DADA2的治疗有益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.

Objective: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings.

Methods: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing.

Results: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients.

Conclusion: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.

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来源期刊
Northern Clinics of Istanbul
Northern Clinics of Istanbul MEDICINE, GENERAL & INTERNAL-
CiteScore
0.40
自引率
0.00%
发文量
48
审稿时长
10 weeks
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