PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience

AUTHORS

Farhad Salehzadeh 1 , * , Maryam Vahedi 2 , Saeid Hosseini-Asl 3 , Sepideh Jahangiri 4 , Shahram Habibzadeh 5 , Mahsa Hosseini-Khotbesara 6

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How to Cite: Salehzadeh F, Vahedi M, Hosseini-Asl S, Jahangiri S, Habibzadeh S , et al. PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience, Iran J Pediatr. 2014 ; 24(1):64-68.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 24 (1); 64-68
Published Online: November 27, 2013
Article Type: Research Article
Received: January 09, 2013
Accepted: September 29, 2013

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Abstract

Objective: Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. Methods: 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions provided by the manufacturer. Findings: The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations. Conclusion: About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms.

 

Keywords

PFAPA Gaslini Score MEFV Gene MEFV Gene Mutations

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