National CAPS (Cryopyrin-Associated Periodic Syndrome) Registry

نویسندگان

  • C Bibalo
  • G Paloni
  • L Lepore
  • M Gattorno
  • M Finetti
  • F Zulian
  • G Martini
  • M Alessio
  • M Cattalin
  • A Stabile
  • D Rigante
  • A Insalaco
  • R Manna
  • R Gallizzi
  • L Obici
  • L Cantarini
  • S Martino
  • R Cionsolini
چکیده

Patients and methods The Italian CAPS Registry started in 2004 and has currently enrolled 29 patients: 16 with Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCAs), 8 with Muckles Welles syndrome (MWS) and 5 with Familial Cold Urticaria (FCU). 16 patients were treated with Anakinra (IL-1 receptor antagonist) at 1 mg/kg/ day. The Child Health Questionnaire (CHQ-PF 50) was used to assess the health related quality of life.

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[CAPS: cryopyrin-associated periodic syndrome].

Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them, FCAS shows the mildest phenotype while CINCA is the severest. Common symptoms include sporadic or c...

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عنوان ژورنال:

دوره 9  شماره 

صفحات  -

تاریخ انتشار 2011