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Familial Mediterranean fever gene (MEFV) mutations in patients with rheumatic heart disease
  1. E Tutar,
  2. N Akar,
  3. S Atalay,
  4. E Yilmaz,
  5. E Akar,
  6. F Yalçinkaya
  1. Ankara University Medical School, Department of Pediatrics, Ankara, Turkey
  1. Correspondence to:
    Dr Ercan Tutar, Defne sitesi 8. blok, No: 37, 06530, Umitkoy, Ankara, Turkey;

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Familial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disease that primarily affects Jews, Armenians, Turks, and Arabs. It is characterised by recurrent self limited attacks of fever accompanied by inflammation of the peritoneum, synovium, and pleura. The gene responsible for FMF (MEFV) has been cloned recently on the short arm of chromosome 16 and more than 20 mutations have been identified.1 The gene product pyrin (marenostrin) is thought to control the inflammatory response by regulating the expression of some target genes that are involved in the suppression of inflammation. Thus, it was suggested that mutations in the MEFV gene prevent the normal pyrin (marenostrin) mediated negative feedback mechanism and trigger inflammation. Recently several studies suggested that having a MEFV mutation might act as an additional susceptibility factor in inflammatory conditions.2

Rheumatic heart disease (RHD) is a major sequel of rheumatic fever (RF), which is also an inflammatory disease that occurs after streptococcal throat infections. The role of genetic factors in the pathogenesis of RF is not clearly known. Familial predisposition to acquiring RF has been appreciated for a long time. Previous studies clearly demonstrated that children who developed RF had an exaggerated antibody response after streptococcal pharyngeal infections. These studies …

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