Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

Yilmaz R., Sezer T., Esmeray H.

JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, cilt.6, sa.1, ss.120-122, 2015 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4328/jcam.874
  • Dergi Adı: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.120-122
  • İstanbul Üniversitesi Adresli: Evet

Özet

Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.