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Pediatric Nephrology

Erschienen in:

01.09.2007 | Brief Report

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

verfasst von: Buket Dalgic, Odul Egritas, Sinan Sari, Laurence Cuisset

Erschienen in: Pediatric Nephrology | Ausgabe 9/2007

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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.

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Titel: A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra
verfasst von: Buket Dalgic
Odul Egritas
Sinan Sari
Laurence Cuisset
Publikationsdatum: 01.09.2007
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 9/2007
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0500-8

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