Living with Apparent mineralocorticoid excess
A rare inherited condition that causes very early, severe high blood pressure and affects growth.
Understanding Apparent mineralocorticoid excess
It is a form of pseudohyperaldosteronism, meaning the body acts as if it has too much of the hormone aldosterone when levels are actually low. Blood tests show low renin and low aldosterone levels. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High blood pressure (hypertension)
- Extreme thirst (polydipsia)
- Poor weight gain (failure to thrive)
- Short stature
- Too much calcium in the kidneys (nephrocalcinosis)
- Low renin and low aldosterone on blood tests
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in HSD11B2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the HSD11B2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 11 beta-hydroxysteroid dehydrogenase type 2 deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; ame; ame - apparent mineralocorticoid excess; ape; apparent mineralocorticoid excess syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Apparent mineralocorticoid excess.
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