Literature DB >> 1083554

[Intermittent rheumatism revealing a familial syndrome. Arthritis--urticarian eruptions--deafness: Muckle-Wells syndrome without kidney amylosis].

A Prost, H Barrière, F Legent, S Cottin, B Wallez.   

Abstract

At a consultation with a 31-year-old man, motivated by painful episodes of joint pain that had started considerably earlier, a familial disease entity was discovered that included the three clinical signs of the Muckle and Wells syndrome : urticarial eruption, intermittent pain in the limbs originating in the joints, and bilateral deafness of perception. In spite of the absnece of renal amylosis, the similarity of the characteristics of these three elements, as well as the nature of the biochemical disturbances, and the mode of transmission, led the authors to consider these observations in the contest of this syndrome. The joint manifestations being indicative, the signs of this intermittent rheumatism are described, as well as the characteristics of the other disorders.

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Year:  1976        PMID: 1083554

Source DB:  PubMed          Journal:  Rev Rhum Mal Osteoartic        ISSN: 0035-2659


  2 in total

1.  Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

Authors:  L Cuisset; J P Drenth; J M Berthelot; A Meyrier; G Vaudour; R A Watts; D G Scott; A Nicholls; S Pavek; C Vasseur; J S Beckmann; M Delpech; G Grateau
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Authors:  Catherine Dodé; Nathalie Le Dû; Laurence Cuisset; Frank Letourneur; Jean-Marie Berthelot; Gérard Vaudour; Alain Meyrier; Richard A Watts; David G I Scott; Anne Nicholls; Brigitte Granel; Camille Frances; François Garcier; Patrick Edery; Serge Boulinguez; Jean-Paul Domergues; Marc Delpech; Gilles Grateau
Journal:  Am J Hum Genet       Date:  2002-04-25       Impact factor: 11.025

  2 in total

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