ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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ORIGINAL RESEARCH ARTICLES |
ıs There A Different Phenotype For Familial Mediterranean Fever Arthritis In Çorum And Its Vicinity?
Dr. Emrullah SOLMAZGÜL, aDr. Yusuf TUNCA, bDr. Burak ŞAHAN, aDr. Mustafa KAPLAN, aDr. Mahmut DEMİRCİ, aDr. Selim NALBANTa
aİç Hastalıkları AD, GATA Haydarpaşa, İSTANBUL
bTıbbi Genetik BD, GATA, ANKARA
Objective: Familial Mediterranean Fever (FMF) is an autosomal recessive disease, which primarily affects the population residing in the Mediterranean basin, particularly Turks, Armenians, Arabs and Sephardic Jews. The most severe complication of the disease is amyloidosis and the frequency of this complication varies between societies and races. M694V mutation has been defined to be the most common mutation in the development of amyloidosis. Periodic inflammatory attacks are the most characterizing clinical features of the disease and arthritis may be the only component of these attacks. The aim of this study was to see if the pyrin gene analysis results displayed any specific characteristics and if so, to investigate the geographical or district distribution of these patients.
Material and Methods: Patients with arthritis as the primary clinical presentation without fever and abdominal pain were included in the study. FMF diagnosis was based on Livneh criteria. Clinical and geographic data were noted. M694V, M680I, E148Q and V726A mutations were analyzed with PCR.
Results: MEFV gene mutation was detected in at least one locus in 25 (68%) out of 37 patients included in the study. Twelve (32%) patients had no mutation. The majority of patients who had gene mutation were from Çorum (a city in Mid-Anatolia) and the majority of them had M694V mutation.
Conclusion: MEFV mutations and phenotype may vary among races and regions as published in several previous studies. However, FMF is an autosomal recessive disease; there is no real phenotype description for FMF. Cases with sole FMF arthritis included in this study from Çorum showed very significant MEFV mutation immediately, somehow never described before. The consideration that it may be a new phenotype correlated with M694V mutation needs to be validated in further studies.Keywords: Familial mediterranean fever, arthritis, mutationTurkiye Klinikleri J Med Sci 2006, 26:20-23
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