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The Bartter-Gitelman spectrum: 50-year follow-up with revision of diagnosis after whole-genome sequencing 

Abstract:

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypomagnesemia and hypocalciuria are typical of GS, while juxtaglomerular hyperplasia is characteristic of BS. GS is due to SLC12A3 variants, whereas BS is due to variants in SLC12A1, KCNJ1, CLCNKA, CLCN...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1210/jendso/bvac079

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Oxford college:
Keble College
Role:
Author
ORCID:
0000-0001-8616-0205
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Publisher:
The Endocrine Society Publisher's website
Journal:
Journal of the Endocrine Society Journal website
Volume:
6
Issue:
7
Article number:
bvac079
Publication date:
2022-05-15
Acceptance date:
2022-05-30
DOI:
EISSN:
2472-1972
Language:
English
Keywords:
Pubs id:
1260525
Local pid:
pubs:1260525
Deposit date:
2022-06-01

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