A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra


Dalgic B., Egritas Ö. , Sari S., Cuisset L.

PEDIATRIC NEPHROLOGY, cilt.22, sa.9, ss.1391-1394, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Konu: 9
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s00467-007-0500-8
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Sayfa Sayıları: ss.1391-1394

Özet

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.