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Article

Challenges in the Diagnosis and Management of a Paediatric Patient With Normotensive Pseudohypoaldosteronism Type IID.

Nephrology (Carlton, Vic.) - 1 May 2026

Kuchay Mohammad Shafi, John Navein Thomas, Kaur Parjeet

Abstract excerpt

Pseudohypoaldosteronism type IID (PHA2D) is a rare genetic disorder caused by mutations in the KLHL3 gene, leading to increased activity of the thiazide-sensitive sodium-chloride cotransporter (NCC) in the kidneys. This overactivity promotes excessive sodium and chloride reabsorption, resulting in hyperkalaemia, hyperchloremic metabolic acidosis, and suppressed renin/aldosterone levels, despite preserved renal...

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Identifiers

PMID: 42057493
DOI: 10.1111/nep.70211

Genes

KLHL3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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