Overview
Pseudohypoaldosteronism type 1 (PHA1) is a rare condition where the body cannot respond properly to a hormone called aldosterone. Aldosterone normally tells the kidneys to hold onto salt (sodium) and get rid of potassium. In PHA1, the body ignores this signal, so too much salt is lost in the urine, sweat, and stool, while potassium builds up to dangerous levels in the blood. This causes a serious salt-wasting crisis, especially in newborns. There are two main forms of PHA1. The autosomal dominant form (also called renal PHA1) is caused by changes in the NR3C2 gene and mainly affects the kidneys. It tends to be milder and often improves with age. The autosomal recessive form (also called systemic or multiorgan PHA1) is caused by changes in the SCNN1A, SCNN1B, or SCNN1G genes, which affect the epithelial sodium channel (ENaC). This form affects the kidneys, lungs, sweat glands, and gut, and is more severe and lifelong. Key symptoms include dangerously low sodium, high potassium, dehydration, poor weight gain, and in the recessive form, recurring lung infections similar to cystic fibrosis. Treatment focuses on replacing lost salt and managing potassium levels. With proper treatment, many patients — especially those with the milder dominant form — can live relatively normal lives. The recessive form requires lifelong, intensive management.
Also known as:
Key symptoms:
Very low sodium levels in the blood (hyponatremia)Very high potassium levels in the blood (hyperkalemia)Severe dehydrationPoor weight gain or failure to thrive in infancyVomiting and feeding difficultiesExtreme tiredness and weaknessLow blood pressureRecurring lung infections or breathing problems (mainly in the recessive form)Skin rashes that look like acne or pustules (mainly in the recessive form)Excessive salt loss in sweatAbnormal heart rhythms due to high potassium
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pseudohypoaldosteronism type 1.
View clinical trials →Clinical Trials
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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 Pseudohypoaldosteronism type 1.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.Which form of PHA1 does my child have, and how does that affect the long-term outlook?,How much salt supplement does my child need, and how do I give it safely?,What are the warning signs of a salt-wasting crisis, and when should I go to the emergency room?,Does my child need to follow a low-potassium diet, and can you refer us to a dietitian?,If we have more children, what is the chance they will also have PHA1?,Should my child be seen by a lung specialist, and does the recessive form affect the lungs?,Are there any clinical trials or new treatments being studied for PHA1 that we should know about?
Common questions about Pseudohypoaldosteronism type 1
What is Pseudohypoaldosteronism type 1?
Pseudohypoaldosteronism type 1 (PHA1) is a rare condition where the body cannot respond properly to a hormone called aldosterone. Aldosterone normally tells the kidneys to hold onto salt (sodium) and get rid of potassium. In PHA1, the body ignores this signal, so too much salt is lost in the urine, sweat, and stool, while potassium builds up to dangerous levels in the blood. This causes a serious salt-wasting crisis, especially in newborns. There are two main forms of PHA1. The autosomal dominant form (also called renal PHA1) is caused by changes in the NR3C2 gene and mainly affects the kidne
At what age does Pseudohypoaldosteronism type 1 typically begin?
Typical onset of Pseudohypoaldosteronism type 1 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Pseudohypoaldosteronism type 1?
1 specialists and care centers treating Pseudohypoaldosteronism type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.