Pseudo‐Hypoaldosteronism Type 2 due to New Variants of <scp>KLHL3</scp> Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide

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.

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Publication Details

Journal
Clinical Case Reports
Published
2025-09-01
DOI
https://doi.org/10.1002/ccr3.70897
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Carmela Caputo, Monica Repetto, Massimo Giusti
Clinical Case Reports
Ion Transport and Channel Regulation
article

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

Carmela Caputo, Monica Repetto, Massimo Giusti
article en

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.

Clinical Case ReportsVol. 13(9)
Ospedale San Paolo (IT), Ospedale San Paolo (IT), Santobono Children's Hospital (IT), Centro Diagnostico Italiano (IT), University of Genoa (IT)
Università degli Studi di Padova
Openalex Percentile: Top 78%
Ion Transport and Channel Regulation
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