Clinical and diagnostic features of Bartter and Gitelman syndromes

Author:

Walsh Patrick R1,Tse Yincent1,Ashton Emma2,Iancu Daniela3,Jenkins Lucy2,Bienias Marc4,Kleta Robert23,van’t Hoff William2,Bockenhauer Detlef23ORCID

Affiliation:

1. Department of Nephrology, Great North Children’s Hospital NHS Foundation Trust, Newcastle upon Tyne, UK

2. Department of Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

3. Division of Medicine, UCL Centre for Nephrology, London, UK

4. Department of Paediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany

Funder

Kids Kidney Research

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Reference33 articles.

1. Rare independent mutations in renal salt handling genes contribute to blood pressure variation;Ji;Nat Genet,2008

2. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III;Simon;Nat Genet,1997

3. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2;Simon;Nat Genet,1996

4. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK;Simon;Nat Genet,1996

5. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter;Simon;Nat Genet,1996

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