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Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients
المؤلفون المشاركون
Avčin, Tadej
Perko, Daša
Debeljak, Maruša
Toplak, Nataša
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-03-04
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology.
The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis.
Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children’s Hospital, Ljubljana, were collected from 2008 to 2014.
All four genes were PCR amplified and directly sequenced.
Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years.
Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively.
Family history of recurrent fevers in childhood was positive in 78%.
Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants.
No variants of clinical significance were found in MVK and AIM2 genes.
Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Perko, Daša& Debeljak, Maruša& Toplak, Nataša& Avčin, Tadej. 2015. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients. Mediators of Inflammation،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1072238
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Perko, Daša…[et al.]. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients. Mediators of Inflammation No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1072238
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Perko, Daša& Debeljak, Maruša& Toplak, Nataša& Avčin, Tadej. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients. Mediators of Inflammation. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1072238
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1072238
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
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