A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

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BATU AKAL E. D., SÖNMEZ H. E., BİLGİNER Y., ÖZEN S.

TURKISH JOURNAL OF PEDIATRICS, cilt.60, sa.6, ss.726-728, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 60 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.24953/turkjped.2018.06.014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.726-728
  • Anahtar Kelimeler: periodic fever with aphthous stomatitis, pharyngitis, and adenitis, tumor necrosis factor receptor associated periodic syndrome, R92Q mutation, INFEVERS, RECEPTOR
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old boy heterozygous for R92Q mutation in TNFRSF1A gene expressing a periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype. However, some of his symptoms such as myalgia and the long duration of fever attacks were not typical for PFAPA. He was treated with methylprednisolone during the attacks and also responded to colchicine. The family history revealed that his grandfather, mother, and uncle suffered from similar attacks, and interestingly all of them responded to tonsillectomy. PFAPA-like features have already been reported in patients with the R92Q mutation. However, this case is interesting with the response to colchicine treatment and response to tonsillectomy in his relatives.