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Vol. 48. Issue 5.
Pages 430-440 (September - October 2020)
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Vol. 48. Issue 5.
Pages 430-440 (September - October 2020)
Original Article
DOI: 10.1016/j.aller.2019.12.010
The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections
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M.H. Celiksoya,
Corresponding author
drmhc@hotmail.com

Corresponding author.
, C. Doganb, B. Erturkc, E. Keskind, B.S. Adae
a Department of Pediatric Allergy and Immunology, Gaziosmanpasa Taksim Education and Research Hospital, Istanbul, Turkey
b Department of Pediatrics, Gaziosmanpasa Taksim Education and Research Hospital, Istanbul, Turkey
c Department of Genetic Diseases, Okmeydanı Education and Research Hospital, Istanbul, Turkey
d Department of Genetic Diseases, Haseki Education and Research Hospital, Istanbul, Turkey
e Department of Genetic Diseases, Duzen Laboratories Group, Ankara, Turkey
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Tables (7)
Table 1. Demographics of children with familial Mediterranean fever.
Table 2. Clinical manifestations of children with familial Mediterranean fever.
Table 3. MEFV mutations in children with familial Mediterranean fever.
Table 4. Comparison of MEFV positive and MEFV negative children with familial Mediterranean fever.
Table 5. Comparison of PFAPA variants and PFAPA negative children with familial Mediterranean fever.
Table 6. Comparison of children with familial Mediterranean fever according to fever and sub-febrile fever.
Based on these criteria, the following criteria were used in the present study:.
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Abstract
Background

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene.

Methods

A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018.

Results

A total of 454 patients with familial Mediterranean fever were evaluated. The median age of diagnosis was 60 months (min–max: 6–228) and the percentage of patients who were male was 57.5%. A MEFV gene mutation was determined in 310 (68.3%) children. The most frequent genetic mutation was a R202Q heterozygote mutation, which was found in 95 patients (20.9%). When compared with MEFV-negative patients, elevation of serum amyloid A and fibrinogen levels during an episode of FMF was found to occur more frequently in MEFV-positive patients (p=0.019 and 0.027, respectively). Male gender, cigarette exposure, and a younger diagnosis age were seen more frequently in patients who had episodes with fever (p=0.039, 0.022, and 0.001, respectively). Chronic cough with sputum and persistent purulent rhinitis were more frequent in the group which did not experience fever episodes (p=0.003 and 0.002, respectively).

Conclusions

While being a periodic fever syndrome, familial Mediterranean fever also presents as a multisystemic disease with heterogeneous clinical symptoms. Severe atopic diseases and recurrent respiratory tract infections are characteristic features of this disease.

Keywords:
Familial Mediterranean fever
PFAPA syndrome
MEFV gene
Atopy
Asthma
Allergic rhinitis
Abbreviations:
FMF
PFAPA syndrome
SAA

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