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Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.

CEN case reports - 1 Oct 2025

Vallabhaneni Pujitha, Hasan S K Safikul, Tiewsoh Karalanglin, Gupta Aarchie, Srivastava Priyanka, Dawman Lesa

Abstract excerpt

Apparent mineralocorticoid excess (AME) is a rare genetic disorder caused by reduced activity of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme. It is characterized by hypertension, hypokalemia, and low levels of renin and aldosterone. This study presents the case of a 2-year-old female patient who exhibited abdominal distension, hypertension, recurrent hypokalemia with metabolic alkalosis, failure...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40720003
DOI: 10.1007/s13730-025-01015-z
PMCID: PMC12457250

Genes

HSD11B2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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