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2017 ; 9
(ä): 123-129
Nephropedia Template TP
Open Access Rheumatol
2017[]; 9
(ä): 123-129
PMID28744167
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Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to
NLRP3 gene mutations, responsible for excessive caspase-1 activation and
interleukin 1? 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.