Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations

@article{Bergaya2012PathogenesisOP,
  title={Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations},
  author={Sonia Bergaya and Emmanuelle Vidal-Petiot and Xavier Jeunema{\^i}tre and Juliette Hadchouel},
  journal={Current Opinion in Nephrology and Hypertension},
  year={2012},
  volume={21},
  pages={39–45}
}
Purpose of reviewPseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertension, associated with hyperkalemia and hyperchloremic metabolic acidosis. WNK1 and WNK4 are two of the genes mutated in PHA2 patients. This review focuses on the mechanisms by which deletions of the first intron of WNK1 found in PHA2 patients trigger the disease. Recent findingsThe WNK1 gene gives rise to a ubiquitous kinase (L-WNK1) and to a shorter kinase-defective isoform, KS… 
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19 Citations
Background Citations
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19 Citations

SPAK Deficiency Corrects Pseudohypoaldosteronism II Caused by WNK4 Mutation

SPAK may be a therapeutic target for disorders with salt-sensitive hypertension related to WNK4 activation and activation of SPAK-NCC plays the dominant role in PHA II.

Clinical features and genetic findings in Chinese children with distal renal tubular acidosis.

  • F. ZhouJianhua Mao L. Du
  • Medicine, Biology
    International journal of clinical and experimental pathology
  • 2018
It is indicated that compound heterozygosity at 2 or more different but related genes can be responsible for its pathogenesis and whole-exome sequencing is a labor and cost-effective means of analyzing dRTA-associated genes.

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy.

WNK-SPAK/OSR1-NCC kinase signaling pathway as a novel target for the treatment of salt-sensitive hypertension

An overview of the currently reported molecular inhibitors of the WNK-SPAK/OSR1-NCC pathway is provided and their potential as treatment options for Gordon’s syndrome are discussed.

Inherited forms of mineralocorticoid hypertension.

Disorders of aldosterone synthesis, secretion, and cellular function

  • A. Root
  • Biology, Medicine
    Current opinion in pediatrics
  • 2014
Purpose of review The purpose of this review is to describe the renin–angiotensin–aldosterone system and its regulatory control of sodium, potassium, chloride, hydrogen ion, and water homeostasis…

Hypertension: the missing WNKs.

This review summarizes recent developments in the regulation of the WNK signaling cascade and its role in regulation of blood pressure.

Protein phosphatase 1 inhibitor-1 deficiency reduces phosphorylation of renal NaCl cotransporter and causes arterial hypotension.

I-1 is a DCT-enriched gene product that controls arterial BP, possibly through regulation of NCC activity.

Pseudohypoaldosteronism Secondary to High Output Ileostomy: A Unique Report in an Infant

A case of an infant presented with salt-losing crisis and was found to have pseudohypoaldosteronism secondary to excessive losses through ileostomy, which had never been reported previously in children.

ASK3 responds to osmotic stress and regulates blood pressure by suppressing WNK1-SPAK/OSR1 signaling in the kidney.

It is shown that apoptosis signal-regulating kinase 3 (ASK3) is predominantly expressed in the kidney and alters its kinase activity bidirectionally in response to osmotic stress and that it has a role in the control of blood pressure as an upstream suppressor of the WNK1-SPAK/OSR1 signalling pathway.

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