Premium
Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle‐Wells syndrome?
Author(s) -
Throssell D.,
Feehally J.,
Trembath R.,
Walls J.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03271.x
Subject(s) - medicine , amyloidosis , nephropathy , dermatology , pedigree chart , sensorineural hearing loss , hearing loss , endocrinology , genetics , biology , audiology , gene , diabetes mellitus
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.