دورية أكاديمية
أعرض في EDS

Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.

التفاصيل البيبلوغرافية
العنوان: Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.
المؤلفون: Celikel E; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Aydin F; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Tekin ZE; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Kurt T; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Sezer M; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Tekgoz N; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Karagol C; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Coskun S; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Kaplan MM; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye., Kurt ANC; Department of Pediatric Neurology, Yildirim Beyazit University Faculty of Medicine, Ankara, Turkiye., Acar BC; Department of Pediatric Rheumatology, Ankara City Hospital, Ankara, Turkiye.
المصدر: Northern clinics of Istanbul [North Clin Istanb] 2023 Aug 02; Vol. 10 (4), pp. 411-417. Date of Electronic Publication: 2023 Aug 02 (Print Publication: 2023).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Kare Publishing Country of Publication: Turkey NLM ID: 101684520 Publication Model: eCollection Cited Medium: Internet ISSN: 2536-4553 (Electronic) Linking ISSN: 25364553 NLM ISO Abbreviation: North Clin Istanb Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Istanbul, Turkey : Kare Publishing, [2014]-
مستخلص: 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.
Competing Interests: No conflict of interest was declared by the authors.
(© Copyright 2023 by Istanbul Provincial Directorate of Health.)
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فهرسة مساهمة: Keywords: ADA2 deficiency; children; livedo racemosa; stroke; vasculitis
تواريخ الأحداث: Date Created: 20230918 Latest Revision: 20230919
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10500243
DOI: 10.14744/nci.2022.45380
PMID: 37719263
قاعدة البيانات: MEDLINE
الوصف
تدمد:2536-4553
DOI:10.14744/nci.2022.45380