Celikel Elif, Aydin Fatma, Tekin Zahide Ekici, Kurt Tuba, Sezer Muge, Tekgoz Nilufer, Karagol Cuneyt, Coskun Serkan, Kaplan Melike Mehves, Kurt Aysegul Nese Citak, Acar Banu Celikel
Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye.
Department of Pediatric Neurology, Yildirim Beyazit University Faculty of Medicine, Ankara, Turkiye.
North Clin Istanb. 2023 Aug 2;10(4):411-417. doi: 10.14744/nci.2022.45380. eCollection 2023.
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.
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.
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.
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.
本研究旨在评估腺苷脱氨酶2缺乏症（DADA2）患者的临床、实验室和影像学表现及预后，并强调在有神经学表现的患者鉴别诊断中应考虑DADA2的情况。
在这项回顾性描述性研究中，报告了6例DADA2患者的病例系列。记录患者的临床和实验室数据、治疗方案及预后。通过ADA2酶活性测定和/或ADA2基因测序确诊DADA2。
本研究纳入了6例DADA2患者。症状出现的中位年龄为6.5岁（范围3.5 - 13.5岁）。从首次出现症状到确诊的中位时间为9（3 - 72）个月。4例患者的家族中有近亲结婚情况。皮肤、神经系统和肌肉骨骼系统是最常受累的系统。在我们的病例系列中，模仿结节性多动脉炎（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受累。3例患者出现缺血性中风，2例患者出现脑神经麻痹，2例患者出现癫痫发作。对所有患者进行了CECR1基因分析。仅对1例患者分析了血浆ADA2酶活性。开始使用抗肿瘤坏死因子（TNF）-α治疗。所有患者的炎症均得到抑制并实现缓解。
对于患有PAN样疾病、有家族性PAN/血管炎病史、早发性中风/伴有全身炎症的神经受累患者，应考虑DADA2。此外，抗TNF-α治疗似乎对DADA2的治疗有益。
