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Article

Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2026

Cay Mevra, Turan Ihsan, Atmıs Bahriye, Kotan Leman Damla, Celebi Sukriye Tugce, Cimen Ayse Merve, Mengen Eda, Bayazıt Aysun Karabay, Yuksel Bilgin

Abstract excerpt

OBJECTIVES: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant electrolyte disorder characterized by hypertension, hyperkalemia, metabolic acidosis, and suppressed renin activity, usually with preserved renal function. Pathogenic variants in WNK1, WNK4, KLHL3, and CUL3 have been identified, with CUL3 mutations particularly associated with early-onset and severe phenotypes. Thiazide diuretics are...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41380172
DOI: 10.1515/jpem-2025-0526

Genes

CUL3
KLHL3
WNK1
WNK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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