PFAPA و دوازده MEFV ژن شايع ،تجربه كلينيكي بيماران ما

صالح زاده, فرهاد and وحیدی, مریم and حسینی اصل, سید سعید and جهانگیری, سپیده and حبیب زاده, شهرام and حسینی, مهسا (1392) PFAPA و دوازده MEFV ژن شايع ،تجربه كلينيكي بيماران ما. Iranian Journal of Pediatrics ــ 24 (1). pp. 64-68. شاپا 2008-2142

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Official URL: http://ijp.tums.ac.ir/index.php/ijp/article/view/1...


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.

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :فرهاد صالح زاده
Additional Information:IF: 0/522 Indexed in: ISI (Citation Index Expanded); PubMed/PMC; SCOPUS; Embase; CINAHL; DOAJ; IMMER; SID; Iranmedex; Magiran; Index Copernicus;
کلیدواژه ها (انگلیسی):PFAPA, Gaslini score, MEFV gene, MEFV gene mutations
Subjects:QW Microbiology and Immunology
WC Communicable Diseases
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:5417
Deposited By: MS Soghra Golmaghani
Deposited On:12 Dec 1392 10:47
Last Modified:20 Feb 1399 15:58

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