The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy

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dc.contributor.authorYolbas, I.
dc.contributor.authorOzen, F.
dc.contributor.authorKocak, N.
dc.contributor.authorKelekci, S.
dc.contributor.authorGunes, A.
dc.contributor.authorYel, S.
dc.date.accessioned2020-03-26T18:31:45Z
dc.date.available2020-03-26T18:31:45Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractOBJECTIVES, Familial mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limiting fever, peritonitis, arthritis, synovitis, pleuritis, carditis, and erysipelas-like lesions. The aim of this study was to investigate the frequency of the MEFV gene mutation in patients who admitted to hospital with preliminary diagnosis FMF and who had undergone a prior appendectomy. PATIENTS AND METHODS, We retrospectively reviewed the files of 52 patients between the ages of 7-18 who admitted to hospital with preliminary diagnosis of FMF and who had undergone a prior appendectomy. Age, gender and the MEFV gene mutations were included in the data. The 12 known, common MEFV gene mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] were investigated in the patients. RESULTS, Of these 52 cases, 29 (55.8%) were female and 23 (44.2%) were male. Their mean age was 12.1 +/- 3.1 years (range 7-18 yr). MEFV gene mutation was detected in 31/52 cases (59.6%). In this study was found an high frequency of the MEFV gene mutation in patients admitted to hospital with a preliminary diagnosis FMF who had undergone a prior appendectomy. MEFV gene mutations were M694V 16/41 (39%), E148Q 13/41 (31%), M680I 6/41 (15%), V726A 4/41 (10%) and R761H 2/41 (5%). Other genes mutations were F479L, M680I (G/A), I692del, M694I, K695R and A744S. CONCLUSION, There are too much indications of unnecessary appendectomy in MEFV gene mutation carriers. In MEFV gene mutation carriers the frequency of appendicitis can be higher than the normal population. A more detailed and extensive study should be done about it.en_US
dc.identifier.endpage951en_US
dc.identifier.issn1128-3602en_US
dc.identifier.issue7en_US
dc.identifier.pmid22953644en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage949en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/28528
dc.identifier.volume16en_US
dc.identifier.wosWOS:000306504700014en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherVERDUCI PUBLISHERen_US
dc.relation.ispartofEUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCESen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectFamilial Mediterranean feveren_US
dc.subjectFMFen_US
dc.subjectMEFV gene mutationen_US
dc.subjectDiagnosis Appendectomyen_US
dc.titleThe frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomyen_US
dc.typeArticleen_US

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