Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis Article Swipe
Zvi Farfel
,
Haim Mayan
,
Steven J.D. Karlish
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1073/pnas.1909494116
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1073/pnas.1909494116
Familial hyperkalemia and hypertension (FHHt) is an inherited disease characterized by hyperkalemia, hypertension, and hyperchloremic acidosis (1, 2). The primary defect is a hyperactive sodium chloride cotransporter (NCC), expressed exclusively in renal distal convoluted tubule (DCT). FHHt is caused by a mutation in 1 of 4 genes, WNK1, WNK4, KLHL3, and Cul3, which leads to activation of NCC (2). A recent publication in PNAS (3) shows that a mutation of WNK4 prevents specific modulation by Cl− ions, inhibits its activity, and produces a FHHt phenotype. This emphasizes the significant role of WNK4 in renal Cl− handling in pathogenesis of FHHt and the question of the mechanism of hyperchloremic metabolic acidosis (4). Is hyperchloremia in FHHt a primary abnormality … [↵][1]1To whom correspondence may be addressed. Email: farfel{at}post.tau.ac.il. [1]: #xref-corresp-1-1
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- letter
- Language
- en
- Landing Page
- https://doi.org/10.1073/pnas.1909494116
- https://www.pnas.org/content/pnas/116/33/16173.full.pdf
- OA Status
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- Cited By
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- References
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- Related Works
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- OpenAlex ID
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- DOI
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https://doi.org/10.1073/pnas.1909494116Digital Object Identifier
- Title
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Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosisWork title
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letterOpenAlex work type
- Language
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enPrimary language
- Publication year
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2019Year of publication
- Publication date
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2019-08-01Full publication date if available
- Authors
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Zvi Farfel, Haim Mayan, Steven J.D. KarlishList of authors in order
- Landing page
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https://doi.org/10.1073/pnas.1909494116Publisher landing page
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https://www.pnas.org/content/pnas/116/33/16173.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://www.pnas.org/content/pnas/116/33/16173.full.pdfDirect OA link when available
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Hyperkalemia, Acidosis, Medicine, Internal medicine, Renal tubular acidosis, Cardiology, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2023: 1, 2022: 1, 2021: 1, 2019: 1Per-year citation counts (last 5 years)
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9Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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