ABSTRACT

Conclusion:

In this study, the effect of MEFV mutation carriyng, which is very common in our country, on the course of the disease and the response to colchicine could not be demonstrated. Considering that FMF is common in our country, MEFV gene analysis should be considered in patients with findings inconsistent with the clinical and course of PFAPA syndrome.

Results:

Forty-three (51.8%) of the patients were girls. The median age of symptom onset was 1.5 (0.3-7) years, the age at diagnosis was 3.5 (0.5-8) years, and the time to diagnosis was 1.5 (0-7) years. MEFV gene was analysed in 68 (82%) patients, and heterozygous mutations were detected in 25 (36%) patients. The most frequent mutation was E148Q. There was no significant difference between the two groups in terms of mean age at diagnosis, age of symptom onset, duration of attack and frequency of attacks.

Methods:

The files of patients with PFAPA syndrome who were followed up in the pediatric rheumatology clinic for at least 6 months between 2019 and 2021 were retrospectively reviewed. Demographic data, clinical findings, frequency and duration of attacks, MEFV gene analysis results were recorded in the prepared forms.

Objective:

Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) is an autoinflammatory syndrome characterized by periodic fever, aphthous stomatitis, pharyngitis and adenopathy. Our country is located in a geography where Familial Mediterranean fever (FMF) is common. In this study, it was aimed to investigate the effect of MEFV mutation carrying on the clinical features and treatment of PFAPA syndrome.

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The effect of MEFV gene mutations on the clinical course of PFAPA syndrome

ABSTRACT

References