D. Throssell et al., URTICARIA, ARTHRALGIA, AND NEPHROPATHY WITHOUT AMYLOIDOSIS - ANOTHER VARIANT OF THE MUCKLE-WELLS SYNDROME, Clinical genetics, 49(3), 1996, pp. 130-133
The term Muckle-Wells syndrome (MWS) describes an autosomal dominant d
isorder characterised by various combinations of urticaria, sensorineu
ral deafness, amyloidosis, arthralgia and skeletal abnormalities. We d
escribe a family with nephropathy and several symptoms of MWS, but no
evidence of deafness or amyloidosis. Since nephropathy without amyloid
osis has never been reported in MWS, but deafness is a feature of all
reported pedigrees, we conclude that members of this family have a pre
viously unreported inherited predisposition to urticaria, arthralgia a
nd nephropathy which is distinct from the MWS phenotype.