title: Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?
abstract: The term Muckle-Wells syndrome (MWS) describes an autosomal dominant disorder characterised by various combinations of urticaria, sensorineural deafness, amyloidosis, arthralgia and skeletal abnormalities. We describe a family with nephropathy and several symptoms of MWS, but no evidence of deafness or amyloidosis. Since nephropathy without amyloidosis has never been reported in MWS, but deafness is a feature of all reported pedigrees, we conclude that members of this family have a previously unreported inherited predisposition to urticaria, arthralgia and nephropathy which is distinct from the MWS phenotype.
authors: Department of Nephrology, Leicester General Hospital, United Kingdom.
authors: D
authors: D
authors: Throssell
authors: J
authors: J
authors: Feehally
authors: R
authors: R
authors: Trembath
authors: J
authors: J
authors: Walls
mesh_terms: D000293:Adolescent; D000328:Adult; D000686:Amyloidosis / Q000150:complications / Q000209:etiology*; D018771:Arthralgia / Q000150:complications / Q000209:etiology*; D003638:Deafness; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D013577:Syndrome; D014581:Urticaria / Q000150:complications / Q000209:etiology*