Muckle–Wells syndrome: clinical perspectives

Muckle–Wells syndrome: clinical perspectives

Tu-Anh Tran Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France Abstract: Muckle–Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive c...

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Autor principal: Tran TA
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2017
Materias:
Muckle-Wells syndrome
anti-interleukin 1
anakinra
rilonacept
canakinumab
clinical presentation
Diseases of the musculoskeletal system
RC925-935
Acceso en línea:https://doaj.org/article/3942a066745b4e3da9ebab51db64d3eb
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spelling oai:doaj.org-article:3942a066745b4e3da9ebab51db64d3eb2021-12-02T05:35:38ZMuckle–Wells syndrome: clinical perspectives1179-156Xhttps://doaj.org/article/3942a066745b4e3da9ebab51db64d3eb2017-07-01T00:00:00Zhttps://www.dovepress.com/muckle-wells-syndrome-clinical-perspectives-peer-reviewed-article-OARRRhttps://doaj.org/toc/1179-156XTu-Anh Tran Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France Abstract: Muckle–Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients’ quality of life has been drastically improved with the advent of IL-1 inhibitors. This review reports recent findings in MWS, particularly genotype/phenotype correlation, and discusses the clinical perspectives of this disease in a time of efficient treatment. Keywords: Muckle–Wells syndrome, anti-interleukin 1, anakinra, rilonacept, canakinumab, clinical presentation, cryopyrin-associated periodic syndrome, CAPS, NLRP3 geneTran TADove Medical PressarticleMuckle-Wells syndromeanti-interleukin 1anakinrarilonaceptcanakinumabclinical presentationDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol Volume 9, Pp 123-129 (2017)
institution DOAJ
collection DOAJ
language EN
topic Muckle-Wells syndrome
anti-interleukin 1
anakinra
rilonacept
canakinumab
clinical presentation
Diseases of the musculoskeletal system
RC925-935
spellingShingle Muckle-Wells syndrome
anti-interleukin 1
anakinra
rilonacept
canakinumab
clinical presentation
Diseases of the musculoskeletal system
RC925-935
Tran TA
Muckle–Wells syndrome: clinical perspectives
description Tu-Anh Tran Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France Abstract: Muckle–Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients’ quality of life has been drastically improved with the advent of IL-1 inhibitors. This review reports recent findings in MWS, particularly genotype/phenotype correlation, and discusses the clinical perspectives of this disease in a time of efficient treatment. Keywords: Muckle–Wells syndrome, anti-interleukin 1, anakinra, rilonacept, canakinumab, clinical presentation, cryopyrin-associated periodic syndrome, CAPS, NLRP3 gene
format article
author Tran TA
author_facet Tran TA
author_sort Tran TA
title Muckle–Wells syndrome: clinical perspectives
title_short Muckle–Wells syndrome: clinical perspectives
title_full Muckle–Wells syndrome: clinical perspectives
title_fullStr Muckle–Wells syndrome: clinical perspectives
title_full_unstemmed Muckle–Wells syndrome: clinical perspectives
title_sort muckle–wells syndrome: clinical perspectives
publisher Dove Medical Press
publishDate 2017
url https://doaj.org/article/3942a066745b4e3da9ebab51db64d3eb
work_keys_str_mv AT tranta mucklendashwellssyndromeclinicalperspectives
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