Muckle–Wells syndrome: clinical perspectives
نویسنده
چکیده
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.
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Hypofertility in Muckle Wells syndrome and treatment with IL-1 targeting drugs
Introduction Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease (SAID) caused by NLRP3 gene mutations, which results in excessive interleukin-1b (IL-1) secretion. MWS is characterized by recurrent bouts of systemic inflammation, resulting in fever, rash and joint pain. Main complications include sensorineural deafness and amyloidosis. Infertility was mentioned in the first des...
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