PFAPA syndrome in siblings. Is there a genetic background?

Antón-Martín, Pilar; Movilla, Roberto Ortiz; Martín, Sara Guillén; Allende, Luís M.; Rubio, Marie‐Thérèse; González, M. Fernanda López

doi:10.1007/s00431-011-1479-5

Cited by 23 publications

(14 citation statements)

References 19 publications

(23 reference statements)

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“…PFAPA is classically considered as a sporadic and noninherited syndrome [ 8 ]; however, several studies reported PFAPA patients with family members having recurrent fever in their childhood [ 11 , 12 , 22 ]. In our cohort, we identified 3 pairs of siblings.…”

Section: Discussionmentioning

confidence: 99%

“…Despite the fact that PFAPA is considered as a sporadic disease, many studies suggest that it might have a genetic origin. Syndrome has overlapping symptoms with other PFSs with known genetic cause [ 11 ] and, furthermore, recurrent fever in the family members of PFAPA patients has been reported in several studies [ 10 , 12 ]. In addition, genetic variants that are known to cause other autoinflammatory syndromes have been found in PFAPA patients [ 9 , 13 ], but the impact of these genetic variants in PFAPA syndrome is still unknown.…”

Section: Introductionmentioning

confidence: 99%

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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

Perko

Debeljak

Toplak

et al. 2015

Mediators of Inflammation

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Perko

Debeljak

Toplak

et al. 2015

Mediators of Inflammation

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“…An example is the PFAPA, which is not inherited as a mendelian trait, but does exhibit some familial tendency [54, 55]. While the exact cellular determinants and pathogenic molecular mediators remain elusive, the clinical picture and cytokine profile of PFAPA outline a very complex, heterogeneous, but nevertheless autoinflammatory, disease [55].…”

Section: Molecular Pathophysiology Of Pfssmentioning

confidence: 99%

Clinical Genetic Testing of Periodic Fever Syndromes

Marcuzzi

Piscianz

Kleiner

et al. 2013

BioMed Research International

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Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

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“…Desde entonces se han publicado numerosos artículos de pacientes pediá tricos 7 y adultos 8,9 con la patología. En Españ a las series publicadas son relativamente escasas y con un nú mero reducido de pacientes 7,10,11 .…”

Section: Discusió Nunclassified