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Aldosterone Suppression by Dexamethasone in Patients With KCNJ5-Mutated Aldosterone-Producing Adenoma

Kosuke Inoue1,2, Yuto Yamazaki3, Takumi Kitamoto4,5

  • 1Department of Epidemiology, UCLA Fielding School of Public Health, Los Angeles, California.

The Journal of Clinical Endocrinology and Metabolism
|July 19, 2018
PubMed
Abstract

Insights

Aldosterone-producing adenomas with KCNJ5 mutations show increased aldosterone production and heightened responsiveness to ACTH stimulation. Dexamethasone suppression tests may help predict these mutations in APA patients.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Aldosterone biosynthesis is regulated by ACTH, angiotensin II, potassium, and gene mutations.
  • KCNJ5 mutations in aldosterone-producing adenomas (APAs) may affect cardiovascular health, but their impact on ACTH responsiveness is unclear.

Purpose of the Study:

  • To investigate genotype-specific differences in aldosterone biosynthesis in response to ACTH stimulation in patients with APAs.

Main Methods:

  • Cross-sectional study of 141 patients with APA.
  • Analysis of KCNJ5 mutations and associations with renin-angiotensin system (saline infusion test) and ACTH pathways (dexamethasone suppression test).
  • Immunohistochemical analysis of CYP11B1 and CYP17.

Main Results:

  • KCNJ5 mutations were found in 107 patients.
  • Mutated KCNJ5 was associated with higher baseline and post-saline infusion test plasma aldosterone concentrations (PACs).
  • Post-dexamethasone suppression test PAC showed an inverse association with KCNJ5 genotype, indicating increased ACTH responsiveness in mutated APAs.

Conclusions:

  • APAs with KCNJ5 mutations exhibit marked suppression of PAC by dexamethasone, suggesting greater responsiveness to endogenous ACTH.
  • Further studies are needed to validate these findings and assess the clinical utility of the dexamethasone suppression test for predicting KCNJ5 mutations prior to adrenalectomy.

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