A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Apparent mineralocorticoid excess (AME) syndrome (n=1). Intervention: Spironolactone, hydralazine, and atenolol. Primary outcome: Blood pressure and serum potassium stabilization.

Bashair Alabbasi; Mugahid Elhag Elamin; Ghadah Abdulrahman Alsallum; Ghada Alzahrany

doi:10.3345/cep.2026.01473

July 27, 2026Korean Journal of PediatricsOpen Access

A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy

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Key result

Targeted antihypertensive therapy normalizes blood pressure and stabilizes potassium in pediatric apparent mineralocorticoid excess.

n=1

Why the study?

Apparent mineralocorticoid excess (AME) is a rare autosomal recessive hypertension syndrome caused by HSD11B2 mutations, with variable clinical presentation and limited early diagnosis data in children.

Key Points

To describe the clinical presentation, genetic confirmation, and therapeutic response in a 2-year-old child presenting with severe hypertension and persistent hypokalemia due to apparent mineralocorticoid excess.
Clinical evaluation, biochemical testing (serum electrolytes, plasma renin activity, and aldosterone levels), and renal ultrasound and Doppler imaging were conducted in a 2-year-old girl.
Whole exome sequencing was performed to identify underlying genetic causes of early-onset hypertension and persistent hypokalemia.
Targeted pharmacotherapy was administered, comprising spironolactone titrated up to 8 mg/kg/day, atenolol, and hydralazine, alongside potassium chloride supplementation.
Biochemical workup revealed low renin (1 mIU/L), low aldosterone (<26 pmol/L), metabolic alkalosis, and persistent hypokalemia (2.5 mmol/L).
Whole exome sequencing identified a homozygous pathogenic HSD11B2 variant (c.622C>T; p.Arg208Cys), confirming apparent mineralocorticoid excess syndrome.
Targeted therapy with spironolactone titrated to 8 mg/kg/day, hydralazine, and atenolol stabilized serum potassium at 3.7–4.1 mmol/L and reduced peak blood pressure from 136/97 mmHg to 100/60–110/70 mmHg.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P

Population

A 2-year-old girl with severe early-onset hypertension and persistent hypokalemia diagnosed with genetically confirmed apparent mineralocorticoid excess syndrome.

I

Intervention

Spironolactone titrated to 8 mg/kg/day, combined with atenolol 5 mg twice daily and hydralazine 25 mg three times daily.

O

Outcome

Blood pressure control and correction of serum potassium levels.

Limitations

Findings are based on a single case report, limiting broad generalizability.

Implication

This case report highlights the importance of genetic testing for early diagnosis of apparent mineralocorticoid excess (AME) syndrome in children with severe hypertension and hypokalemia, and demonstrates the effectiveness of targeted mineralocorticoid receptor blockade.

Abstract

Apparent mineralocorticoid excess (AME) is a rare autosomal recessive form of hypertension caused by dysfunction of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme.Mutation in the 11β-hydroxysteroid dehydrogenase type 2 HSD11B2 gene located on chromosome 16q22.1,2) 11HSD-2 is expressed in principal cells of the collecting ducts.Activity loss of 11β-HSD2 leads to continuous cortisol accumulation, overstimulation of the mineralocorticoid receptor, increased sodium reabsorption, and potassium loss.Clinical characterization includes early-onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity, and absence of circulating aldosterone.3,4) AME is classified into types I and II. 1) A 2-year-old girl was referred for evaluation of hypokalemia identified during admission for acute tonsillitis.The patient had a 3-day history of fever, upper respiratory symptoms, poor oral intake, and reduced activity.Her fever reached 38°C at home and was accompanied by cough and decreased feeding.Initially diagnosed with A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy

Discussion

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Cite This Study

Alabbasi et al. (2026) conducted a case report in Apparent mineralocorticoid excess (AME) syndrome (n=1). Spironolactone, hydralazine, and atenolol was evaluated on Blood pressure and serum potassium stabilization. Targeted therapy with spironolactone, hydralazine, and atenolol successfully reduced blood pressure from 136/97 mmHg to 100/60-110/70 mmHg and stabilized serum potassium in a 2-year-old with AME.

synapsesocial.com/papers/6ad0fc513afa093ea9acfd3d https://doi.org/10.3345/cep.2026.01473

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A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

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