Title |
Muckle–Wells syndrome: clinical perspectives
|
---|---|
Published in |
Open Access Rheumatology : Research and Reviews , July 2017
|
DOI | 10.2147/oarrr.s114447 |
Pubmed ID | |
Authors |
Tu-Anh Tran |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 55 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 11 | 20% |
Student > Ph. D. Student | 7 | 13% |
Student > Master | 6 | 11% |
Student > Doctoral Student | 3 | 5% |
Researcher | 3 | 5% |
Other | 12 | 22% |
Unknown | 13 | 24% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 19 | 35% |
Biochemistry, Genetics and Molecular Biology | 9 | 16% |
Immunology and Microbiology | 5 | 9% |
Agricultural and Biological Sciences | 4 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Other | 1 | 2% |
Unknown | 16 | 29% |