Pediatric Nephrology

, Volume 22, Issue 9, pp 1391–1394

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

  • Buket Dalgic
  • Odul Egritas
  • Sinan Sari
  • Laurence Cuisset
Brief Report

DOI: 10.1007/s00467-007-0500-8

Cite this article as:
Dalgic, B., Egritas, O., Sari, S. et al. Pediatr Nephrol (2007) 22: 1391. doi:10.1007/s00467-007-0500-8

Abstract

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.

Keywords

Muckle-Wells syndromeAnakinraSensorineural deafnessAutoinflammatory diseaseFever

Copyright information

© IPNA 2007

Authors and Affiliations

  • Buket Dalgic
    • 1
  • Odul Egritas
    • 1
  • Sinan Sari
    • 1
  • Laurence Cuisset
    • 2
  1. 1.Department of Pediatric GastroenterologyGazi University School of MedicineAnkaraTurkey
  2. 2.Laboratoire de Biochimie Genetique, Institut Cochin -INSERM U567 and Hopital Cochin, Assistance Publique Hopitaux de ParisParisFrance