Overview
Pseudohypoaldosteronism (PHA) is a rare condition where the body does not respond properly to a hormone called aldosterone. Aldosterone normally tells the kidneys to hold onto salt (sodium) and get rid of potassium. In PHA, the body ignores this signal, which causes dangerous salt loss and a buildup of potassium in the blood. There are two main types. Type 1 (PHA1) can be inherited and is present from birth. It comes in two forms: a milder kidney-limited form (sometimes called renal PHA1) and a more severe form that affects multiple organs including the lungs, sweat glands, and gut. Type 2 PHA (also called Gordon syndrome) is a different condition where potassium is too high but blood pressure is also elevated. Symptoms often appear in newborns and include poor feeding, dehydration, low sodium, and high potassium levels. Treatment focuses on replacing salt and managing potassium levels. With proper treatment, many patients — especially those with the milder form — can live relatively normal lives. The severe multi-organ form requires lifelong management and more intensive care.
Key symptoms:
Low sodium (salt) levels in the bloodHigh potassium levels in the bloodDehydrationPoor feeding or difficulty eating in newbornsFailure to gain weight or grow normallyLow blood pressureVomitingExtreme tiredness or lethargyRecurrent lung infections or breathing problems (in the severe multi-organ form)Salty-tasting skinSalt wasting through sweat, urine, and stool
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventUniversity Hospital, Strasbourg, France
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Pseudohypoaldosteronism.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which type of PHA does my child have, and what does that mean for their long-term outlook?,How much sodium supplement does my child need each day, and how do I adjust this during illness or hot weather?,What are the warning signs of a salt crisis, and when should I go to the emergency room?,Are there foods my child should avoid because of high potassium content?,Will my child need treatment for life, or is there a chance they will outgrow this?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments we should know about?
Common questions about Pseudohypoaldosteronism
What is Pseudohypoaldosteronism?
Pseudohypoaldosteronism (PHA) is a rare condition where the body does not respond properly to a hormone called aldosterone. Aldosterone normally tells the kidneys to hold onto salt (sodium) and get rid of potassium. In PHA, the body ignores this signal, which causes dangerous salt loss and a buildup of potassium in the blood. There are two main types. Type 1 (PHA1) can be inherited and is present from birth. It comes in two forms: a milder kidney-limited form (sometimes called renal PHA1) and a more severe form that affects multiple organs including the lungs, sweat glands, and gut. Type 2 PHA
At what age does Pseudohypoaldosteronism typically begin?
Typical onset of Pseudohypoaldosteronism is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Pseudohypoaldosteronism?
Yes — 1 recruiting clinical trial is currently listed for Pseudohypoaldosteronism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Pseudohypoaldosteronism?
4 specialists and care centers treating Pseudohypoaldosteronism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.