Overview
Apparent mineralocorticoid excess (AME) is a rare inherited condition that affects how the body regulates blood pressure and salt balance. In a healthy body, a hormone called cortisol is normally broken down by an enzyme called 11-beta-hydroxysteroid dehydrogenase type 2 (11β-HSD2). In people with AME, this enzyme does not work properly, so cortisol builds up in the kidneys and acts like a different hormone called aldosterone. This tricks the kidneys into holding onto too much salt and water, which causes very high blood pressure (hypertension) from an early age, along with low levels of potassium in the blood. The condition is also sometimes called syndrome of apparent mineralocorticoid excess or 11β-HSD2 deficiency. It is caused by changes (mutations) in the HSD11B2 gene and is passed down through families in an autosomal recessive pattern, meaning a child must inherit a faulty copy of the gene from both parents to develop the disease. Without treatment, AME can lead to serious complications including stroke, heart problems, and kidney damage. Treatment focuses on lowering blood pressure and blocking the harmful effects of excess cortisol on the kidneys. With proper management, outcomes can be significantly improved, though lifelong treatment is usually needed.
Key symptoms:
Very high blood pressure, often starting in childhoodLow potassium levels in the blood (hypokalemia)Muscle weakness or cramps due to low potassiumExcessive thirst and frequent urinationSlow growth or short stature in childrenFatigue and general tirednessHeadachesSwelling in the body (edema)Kidney damage over timeHeart enlargement due to long-standing high blood pressureStroke or other cardiovascular complications in severe or untreated cases
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Apparent mineralocorticoid excess.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Apparent mineralocorticoid excess.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is my target blood pressure, and how will we know if treatment is working?,How often do I need blood tests to check my potassium and kidney function?,Should my siblings or other family members be tested for this condition?,Are there any dietary changes I should make, such as reducing salt?,What are the warning signs that I should go to the emergency room?,Is kidney transplantation something I should consider, and what are the criteria?,Are there any clinical trials or new treatments I should know about?
Common questions about Apparent mineralocorticoid excess
What is Apparent mineralocorticoid excess?
Apparent mineralocorticoid excess (AME) is a rare inherited condition that affects how the body regulates blood pressure and salt balance. In a healthy body, a hormone called cortisol is normally broken down by an enzyme called 11-beta-hydroxysteroid dehydrogenase type 2 (11β-HSD2). In people with AME, this enzyme does not work properly, so cortisol builds up in the kidneys and acts like a different hormone called aldosterone. This tricks the kidneys into holding onto too much salt and water, which causes very high blood pressure (hypertension) from an early age, along with low levels of potas
How is Apparent mineralocorticoid excess inherited?
Apparent mineralocorticoid excess follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Apparent mineralocorticoid excess typically begin?
Typical onset of Apparent mineralocorticoid excess is childhood. Age of onset can vary across affected individuals.
Which specialists treat Apparent mineralocorticoid excess?
19 specialists and care centers treating Apparent mineralocorticoid excess are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.