Overview
Pseudohypoaldosteronism type 2E (PHA2E) is a rare genetic condition that causes high blood pressure (hypertension) along with high potassium levels in the blood (hyperkalemia). It is also known as Gordon syndrome type E or familial hyperkalemic hypertension type 2E. This condition is part of a group of disorders collectively called pseudohypoaldosteronism type 2 (PHA2) or Gordon syndrome. In PHA2E, the body's kidneys have trouble properly balancing salt (sodium) and potassium. Normally, the kidneys filter out excess potassium and reabsorb the right amount of sodium. In this disease, the kidneys hold on to too much sodium and potassium, which leads to high blood pressure and dangerously high potassium levels. The condition is caused by mutations in the KLHL3 gene, which plays a role in regulating kidney salt transporters. Symptoms often include high blood pressure that may begin in childhood or early adulthood, along with metabolic acidosis (too much acid in the blood). Some patients may also experience muscle weakness or fatigue related to electrolyte imbalances. The good news is that PHA2E often responds well to treatment with thiazide diuretics, a type of water pill that helps the kidneys get rid of excess sodium and potassium. With proper treatment, blood pressure and potassium levels can usually be brought under control, significantly improving quality of life.
Also known as:
Key symptoms:
High blood pressureHigh potassium levels in the bloodMetabolic acidosis (too much acid in the blood)Muscle weaknessFatigueLow renin levels in the bloodNormal or high aldosterone levelsHeadaches from high blood pressureNumbness or tingling in hands and feetHeart rhythm problems from high potassiumShort stature in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pseudohypoaldosteronism type 2E.
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Specialists
View all specialists →No specialists are currently listed for Pseudohypoaldosteronism type 2E.
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 Pseudohypoaldosteronism type 2E.
Community
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What dose of thiazide diuretic is right for me or my child, and how often should it be taken?,How often do I need blood tests to check my potassium and kidney function?,Are there any medications or supplements I should avoid because they could raise potassium levels?,Should other family members be tested for this condition?,What dietary changes should I make, especially regarding salt and potassium intake?,What are the warning signs that my potassium is too high and I need emergency care?,Will I need to take medication for the rest of my life?
Common questions about Pseudohypoaldosteronism type 2E
What is Pseudohypoaldosteronism type 2E?
Pseudohypoaldosteronism type 2E (PHA2E) is a rare genetic condition that causes high blood pressure (hypertension) along with high potassium levels in the blood (hyperkalemia). It is also known as Gordon syndrome type E or familial hyperkalemic hypertension type 2E. This condition is part of a group of disorders collectively called pseudohypoaldosteronism type 2 (PHA2) or Gordon syndrome. In PHA2E, the body's kidneys have trouble properly balancing salt (sodium) and potassium. Normally, the kidneys filter out excess potassium and reabsorb the right amount of sodium. In this disease, the kidney
How is Pseudohypoaldosteronism type 2E inherited?
Pseudohypoaldosteronism type 2E follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.