A large family having Muckle Wells Syndrome
نویسندگان
چکیده
Introduction CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Mutations in the NLRP3 gene on chromosome 1q44 causes cryopyrinopathies. These are autosomal dominant disorders with varying penetrance, which may also present de novo. MWS is an intermediate phenotype characterized by chronic or intermittent episodes of fever, headache, urticarial rash, arthralgias or arthritis, CNS involvement, ocular disorders and progressive deafness. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis.
منابع مشابه
Four cases of Muckle-Wells syndrome within the same family.
Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication a...
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Introduction Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding d...
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INTRODUCTION Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family. This study analyzes the clinical spectrum, patterns of inflammatory parameters and reports on resp...
متن کاملDelayed diagnosis of Muckle-Wells syndrome – analysis of influencing factors
Purpose Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease. Patients may present with fever, rash, arthralgia, or conjunctivitis. Effective treatment of MWS has become available with the advance of IL-1 inhibition preventing disease sequalae of sensorineural deafness and amyloidosis. Therefore, early diagnosis of MWS is crucial to prevent -organ damage. The aim of this stu...
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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 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, sensor...
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