Özet:

PFAPA (Periodic fever, apthous stomatitis, pharyngitis and cervical adenitis) syndrome, classified as one of the non-hereditary autoinflammatory diseases, is seen with periodic fever, farenitis, cervical lymphadenitis and stomatitis. The diagnosis of PFAPA syndrome is an exclusive diagnosis. There is no specific laboratory indicator to diagnose the disease. Our country is one of the communities with 1/1000 estimated prevalence and 1/5 transportation rate with a family Mediterranean fire intensity over the world. It is well known that this genetic tendency increases the severity of various rheumatism diseases. This study aims to investigate the effects of MEFV mutations on clinical and laboratory findings, disease course and severity in children with PFAPA syndrome. The study included 70 patients diagnosed with PFAPA syndrome and sent MEFV genetic analysis. The demographic data of patients, clinical findings, the number and severity of attacks, the laboratory values in the attack (the number of leukocytes, the rate of erythrosite sedimentation, C reactive protein), the results of the MEFV gene analysis are recorded in pre-prepared forms. 33 patients with MEFV mutation positive and 37 patients with MEFV mutation negative have been compared in terms of demographic data, clinical characteristics and pathology. Results: In patients with PFAPA with MEFV mutation, the attack time and frequency were higher than in patients with non-mutation (p <0,05). The laboratory values in the attack were also higher (lococytes number, erythrosite sedimentation rate, C reactive protein) than those who did not carry MEFV mutation (p <0,05). There were no clinical findings and gender differences. The result: in PFAPA syndrome, the MEFV gene is a variable gene associated with the increased severity of the disease.

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