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| __NOTOC__
| | #redirect [[Cryopyrin-associated periodic syndrome]] |
| {{Infobox_Disease
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| | Name = Muckle-Wells syndrome
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| | Image =
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| | Caption =
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| | DiseasesDB = 30159
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| | ICD10 = {{ICD10|E|85|0|e|75}}, {{ICD10|L|50|8|l|50}}
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| | ICDO =
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| | OMIM = 191900
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| | MedlinePlus =
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| | MeshID =
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| }}
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| {{SI}}
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| {{CMG}}
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| {{SK}} MWS; urticaria-deafness-amyloidosis syndrome; UDA syndrome; cryopyrin- associated periodic syndrome 2; CAPS2
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| ==Overview==
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| '''Muckle-Wells syndrome''' ('''MWS'''), also known as '''Urticaria-deafness-amyloidosis''' ('''UDA'''), is a [[rare disease|rare]] [[autosomal dominant]] disease which causes [[Sensorineural hearing loss|sensorineural]] [[deafness]], recurrent [[urticaria|hives]], and can lead to [[amyloidosis]]. Individuals with MWS often have episodic fever, chills, and painful [[joint]]s. 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.
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| MWS occurs when a mutation in the ''CIAS1'' gene leads to increased activity of the cryopyrin protein. This protein is partly responsible for the body's response to damage or infection. During these states, a chemical called [[IL1B|interleukin 1β]] is produced by an [[immune system|immune cell]] known as a [[macrophage]]. This chemical interacts with a [[Receptor (biochemistry)|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.<ref>Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, Lee WP, Weinrauch Y, Monack DM, Dixit VM. ''Cryopyrin activates the inflammasome in response to toxins and ATP.'' Nature. 2006 Mar 9;440(7081):228-32. Epub 2006 Jan 11. PMID 16407890</ref> The chronic inflammation present in MWS over time can lead to deafness. In addition, the prolonged inflammation can lead to deposition of [[protein]]s in the kidney, a condition known as amyloidosis.
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| MWS was first described in 1962 by Thomas James Muckle and Michael Vernon Wells.<ref>Muckle TJ, Wells M. ''Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.'' Q J Med. 1962 Apr;31:235-48. PMID 14476827</ref> Treatment of MWS with [[anakinra]], an [[interleukin 1]] receptor antagonist, can lead to an improvement in the hearing loss.<ref>Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. ''Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism.'' Ann Rheum Dis. 2006 Apr;65(4):533-4. PMID 16531551</ref>
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| == References ==
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| <references/>
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| [[Category:Rheumatology]]
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| {{WH}}
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| {{WS}}
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