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. 2025 Sep 15;13(9):e70897.
doi: 10.1002/ccr3.70897. eCollection 2025 Sep.

Pseudo-Hypoaldosteronism Type 2 due to New Variants of KLHL3 Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide

Massimo Giusti  1   2 , Monica Repetto  3 , Carmela Caputo  3   4
Affiliations

Pseudo-Hypoaldosteronism Type 2 due to New Variants of KLHL3 Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide

Massimo Giusti et al. Clin Case Rep. .

Abstract

We report a case of pseudo-hypoaldosteronism type 2 (PHA II) in a hypertensive 55-year-old woman who carried new variants of the KLHL3 gene. Hypersensitivity to hydrochlorothiazide was noted. Low dosages of hydrochlorothiazide were needed to restore potassium levels. PHA II must be excluded in adult hypertensive subjects with unexplained hyperkalemia.

Keywords: KLHL3 gene variants; hyperkalemia; hypertension; pseudo‐hypoaldosteronism type 2; sensitivity to hydrochlorothiazide.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Reports on several potassium levels. Historical data before the first examination were collected. Thereafter, data are reported during low potassium diet and hydrochlorothiazide (HTZ) treatment. In brackets, the estimated HTZ posology per day is reported.
See this image and copyright information in PMC

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