Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients
Joint Authors
Avčin, Tadej
Perko, Daša
Debeljak, Maruša
Toplak, Nataša
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-04
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1072238