Literature DB >> 6859127

Inheritance of Bartter syndrome.

R Rodrigues Pereira, J van Wersch.   

Abstract

The Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.

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Year:  1983        PMID: 6859127     DOI: 10.1002/ajmg.1320150110

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

Review 1.  The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes.

Authors:  S Bhandari
Journal:  Postgrad Med J       Date:  1999-07       Impact factor: 2.401

2.  Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.

Authors:  T M Brennan; D Landau; H Shalev; F Lamb; B C Schutte; R Y Walder; A L Mark; R Carmi; V C Sheffield
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

3.  Bartter's syndrome in two generations of an Irish family.

Authors:  P Crowe; A Ahmad; K O'Byrne; M J Cullen
Journal:  Postgrad Med J       Date:  1993-10       Impact factor: 2.401

4.  Localization of the renal Na-K-Cl cotransporter gene (Slc12a1) on mouse chromosome 2.

Authors:  S E Quaggin; J A Payne; B Forbush; P Igarashi
Journal:  Mamm Genome       Date:  1995-08       Impact factor: 2.957

  4 in total

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