Throssell D, Feehally J, Trembath R, Walls J
Department of Nephrology, Leicester General Hospital, United Kingdom.
Clin Genet. 1996 Mar;49(3):130-3. doi: 10.1111/j.1399-0004.1996.tb03271.x.
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.
