A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production

J Hum Hypertens. 2017 Nov;31(11):756-759. doi: 10.1038/jhh.2017.50. Epub 2017 Aug 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Cortex Neoplasms / blood
  • Adrenal Cortex Neoplasms / complications
  • Adrenal Cortex Neoplasms / diagnosis
  • Adrenal Cortex Neoplasms / genetics*
  • Adrenocortical Adenoma / blood
  • Adrenocortical Adenoma / complications
  • Adrenocortical Adenoma / diagnosis
  • Adrenocortical Adenoma / genetics*
  • Aldosterone / blood*
  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • Calcium / metabolism
  • Female
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels / genetics*
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels / metabolism
  • Genetic Predisposition to Disease
  • HEK293 Cells
  • Humans
  • Hyperaldosteronism / blood
  • Hyperaldosteronism / diagnosis
  • Hyperaldosteronism / etiology
  • Hyperaldosteronism / genetics*
  • Membrane Potentials
  • Mutation*
  • Phenotype
  • Potassium / metabolism
  • Sodium / metabolism
  • Transfection

Substances

  • Biomarkers, Tumor
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels
  • KCNJ5 protein, human
  • Aldosterone
  • Sodium
  • Potassium
  • Calcium