Living with Familial hypoaldosteronism
A rare inherited condition with low aldosterone that can cause salt and fluid imbalance, especially in infants.
Understanding Familial hypoaldosteronism
In infancy, it can cause a salt and fluid imbalance with poor weight gain, repeated vomiting, and severe dehydration. Fever, diarrhea, sleepiness, and poor feeding since birth may also occur. Older people with the late-onset form are less affected or have no symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain (failure to thrive)
- Repeated vomiting
- Dehydration and low blood volume
- Low blood pressure
- Sleepiness (lethargy)
- Feeding difficulties
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 and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: familial aldosterone deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial hypoaldosteronism.
Explore research for Familial hypoaldosteronism
Explore actively recruiting Familial hypoaldosteronism studies with HealthSpark.
Find actively recruiting studies for Familial hypoaldosteronism with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial hypoaldosteronism studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial hypoaldosteronism
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial hypoaldosteronism experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.