PFAPA و دوازده MEFV ژن شايع ،تجربه كلينيكي بيماران ما

Title

PFAPA and 12 common MEFV gene mutations, our clinical experience

English Abstract

ntroduction 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. Material and methods: 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations were evaluated in them. The 12 most common MEFV gene mutations (P369S, F479L, M680I (G / C), M680I (G / A), I692del, M694V, M680I, K695R, V726A, A744S, R761H, E148Q) were analyzed by using amplification refractory mutation system for 11 of the first and the PCR was performed for E148Q. Results: The age of patients was between 6 months to 14 years old, and 15 were male. 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 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. Conclusions: About 30 percent of patients had MEFV gene mutations but these mutations don't play a main role in presentation of PFAPA symptoms.

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