Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations

Cakan M., Aktay-Ayaz N., Keskindemirci G., Karadag Ş. G.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.4, ss.467-470, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.04.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.467-470
  • Anahtar Kelimeler: digenic inheritance, familial Mediterranean fever, hyperimmunoglobulinemia D syndrome, periodic fever, AUTOINFLAMMATORY DISEASE, MEFV
  • İstanbul Üniversitesi Adresli: Hayır

Özet

The periodic fever syndromes are autoinflammatory diseases that present with recurrent fever, serositis and rash. Familial Mediterranean fever is the most common periodic fever syndrome and characterized by recurrent attacks of fever, arthritis, peritonitis, pleuritis that typically last 1-3 days. Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy. In some cases the clinical picture of the patient does not fit to one autoinflammatory syndrome because of the digenic inheritance. This may cause to overlap or atypical clinical features or an unexpected response to treatment. Herein we report two cases of hyperimmunoglobulinemia D syndrome that also had MEFV gene mutations and familial Mediterranean fever phenotype.