同: MWS

WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
prolific English writer best known for his science-fiction novels; he also wrote on contemporary social problems and wrote popular accounts of history and science (1866-1946) (同)H. G. Wells, Herbert George Wells

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/12/18 19:04:34」(JST)

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Muckle–Wells syndrome (MWS), also known as (UDA),^[1] is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS).

Sign and symptoms[edit]

Sensorineural deafness
Recurrent urticaria (hives)
Fevers
Chills
Arthritis (painful joints)

Possible causes[edit]

MWS occurs when a mutation in the CIAS1 gene leads to increased activity of the protein cryopyrin. This protein is partly responsible for the body's response to damage or infection. During these states, a chemical called interleukin 1β is produced by an immune cell known as a macrophage. This chemical interacts with a receptor on the surface of other immune cells to produce symptoms of inflammation such as fever, arthritis, and malaise. In MWS, the increased activity of cryopyrin leads to an increase in interleukin 1β. This leads to inflammation all throughout the body with the associated symptoms.^[2]

History[edit]

MWS was first described in 1962 by Thomas James Muckle (born 1938) and Michael Vernon Wells (born 1932).^[3]

Treatment[edit]

Treatment with anakinra, an interleukin 1 receptor antagonist, can lead to an improvement in the hearing loss.^[4]
Rilonacept (Arcalyst) a dimeric fusion protein for the treatment of CAPS.
Canakinumab, a monoclonal antibody against interleukin-1β

Prognosis[edit]

The chronic inflammation present in MWS over time can lead to deafness. In addition, the prolonged inflammation can lead to deposition of proteins in the kidney, a condition known as amyloidosis.

Pop culture[edit]

In the episode of popular TV series House, the main patient of the Season 7 episode Recession Proof is ultimately diagnosed with this condition.

In an episode of TV series Cake Boss, Buddy Valastro works with a girl with this condition through Make-A-Wish Foundation.

External links[edit]

NOMID Alliance, a non-profit charity devoted to CAPS diseases
Muckle-Wells Syndrome Community on RareShare

References[edit]

^ ORPHANET - About rare diseases - About orphan drugs
^ Mariathasan, S, Weiss, DS, Newton, K, McBride, J, O'Rourke, K, Roose-Girma, M, Lee, WP, Weinrauch, Y et al. (March 2006). "Cryopyrin activates the inflammasome in response to toxins and ATP". Nature 440 (7081): 228–32. doi:10.1038/nature04515. PMID 16407890. Cite uses deprecated parameters (help); |displayauthors= suggested (help)
^ Muckle, TJ (April 1962). "Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome". The Quarterly journal of medicine 31: 235–48. PMID 14476827. Cite uses deprecated parameters (help)
^ Rynne, M, MacLean, C, Bybee, A, McDermott, MF, Emery, P (April 2006). "Hearing improvement in a patient with variant Muckle‐Wells syndrome in response to interleukin 1 receptor antagonism". Annals of the rheumatic diseases 65 (4): 533–4. doi:10.1136/ard.2005.038091. PMC 1798106. PMID 16531551. Cite uses deprecated parameters (help)

UpToDate Contents

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1. クリオピリン関連周期性発熱症候群および関連疾患 cryopyrin associated periodic syndromes and related disorders
2. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
3. 蕁麻疹性血管炎 urticarial vasculitis
4. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases
5. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis

English Journal

Pharmacokinetic and pharmacodynamic properties of canakinumab, a human anti-interleukin-1β monoclonal antibody.

Chakraborty A, Tannenbaum S, Rordorf C, Lowe PJ, Floch D, Gram H, Roy S.SourceNovartis Institutes for BioMedical Research, East Hanover, NJ, USA.
Clinical pharmacokinetics.Clin Pharmacokinet.2012 Jun 1;51(6):e1-e18. doi: 10.2165/11599820-000000000-00000.
Canakinumab is a high-affinity human monoclonal anti-interleukin-1β (IL-1β) antibody of the IgG1/κ isotype designed to bind and neutralize the activity of human IL-1β, a pro-inflammatory cytokine. Canakinumab is currently being investigated on the premise that it would exert anti-inflammatory ef
PMID 22550964

Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways.

Kanazawa N.SourceDepartment of Dermatology, Wakayama Medical University, Wakayama 641-0012, Japan.
Journal of dermatological science.J Dermatol Sci.2012 Jun;66(3):183-9. Epub 2012 Jan 18.
Hereditary autoinflammatory syndromes are monogenic disorders with an inborn error of innate immunity, and include periodic fever syndromes such as familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndromes (CAPS), pyog
PMID 22336993

Japanese Journal

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)

KOIKE Ryuji,KUBOTA Tetsuo,HARA Yukichi,ITO Sayaka,SUZUKI Kyoko,YANAGISAWA Kayoko,UCHIBORI Ken,MIYASAKA Nobuyuki
Modern rheumatology 17(6), 496-499, 2007-12-01
NAID 10020178185