P02-028 - Muckle-Wells syndrome and renal transplantation
نویسندگان
چکیده
Introduction The Muckle-Wells syndrome (MWS) is a rare inherited disease and belongs to the group of cryopyrin-associated periodic syndromes (CAPS). Recurrent fever attacks, myalgia, arthralgia, urticarial rash, headache, conjunctivitis, sensorineural deafness and a severe fatigue syndrome are the typical symptoms of MWS. Due to an unregulated production of IL1 a continuous formation of serum amyloid leads ultimately to the development of AA-myloidosis, which is life-threatening and in some cases the fatal complication of MWS.
منابع مشابه
Successful renal transplantation in Muckle–Wells syndrome treated with anti-IL-1β-monoclonal antibody
We report the first case of a 32-year-old woman with Muckle-Wells syndrome and biopsy-proven systemic AA amyloidosis and end-stage renal disease. She was treated with canakinumab 150 mg subcutaneously every 8 weeks and underwent renal transplantation. Fourteen months after renal transplanation, the patient had no flares of Muckle-Wells syndrome and no evidence of amyloidosis in the renal transp...
متن کاملP02-032 - CAPS: a novel mutation and an unusual phenotype
Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cas...
متن کاملP02-026 - Model-based characterization of the PKPD relationship for canakinumab in CAPS: a step towards personalized
Objectives The objectives of the study were to describe the kinetics of canakinumab and dynamics of binding IL-1b in CAPS patients; to determine if these are different in 2and 3-year-old children versus older children and adults; and to explore the impact of CAPS phenotype (Muckle-Wells Syndrome [MWS], Familial Cold Autoinflammatory Syndrome [FCAS], Neonatal-Onset Multisystem Inflammatory Disea...
متن کاملAnti-IL1ß-monoclonal antibody in a patient with Muckle-Wells Syndrome and renal transplantation - five years experience
Background The Muckle-Wells syndrome (MWS) is a rare inherited disease and belongs to the group of cryopyrin-associated periodic syndromes (CAPS). Recurrent fever attacks, myalgia, arthralgia, urticarial rash, headache, conjunctivitis, sensorineural deafness and a severe fatigue syndrome are the typical symptoms of MWS. Due to an unregulated production of IL1 a continuous formation of serum amy...
متن کاملP02-031 - Phenotype of V198M and Q703K NLRP3 variants
Introduction The term CAPS (cryopyrin-associated periodic syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/ NLRP3. Affected individuals may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestat...
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