Living with Pseudohypoaldosteronism type 1
A condition in which the body loses too much salt, usually showing up in infancy with poor growth and dehydration.
Understanding Pseudohypoaldosteronism type 1
Symptoms look like low aldosterone, a hormone that helps control sodium, but aldosterone levels are actually high. There are two types. The autosomal dominant type affects the kidneys, is milder, and often improves in early childhood. The autosomal recessive type affects the kidneys and other organs, is more severe, and doesn't improve with age. Early signs in infants include poor weight gain and dehydration.
Signs & symptoms
Symptoms vary from person to person and by type. GARD describes these features:
- Poor weight gain and growth (failure to thrive)
- Dehydration
- Salt lost in urine
- Low sodium in the blood (hyponatremia)
- High potassium in the blood (hyperkalemia)
- Too much acid in the blood (metabolic acidosis)
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 kidney 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); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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
GARD says each type has different genes involved and a different inheritance pattern. GARD lists both autosomal dominant and autosomal recessive types.
Also known as: pha type 1; pha1; pseudohypoaldosteronism, type 1; pseudohypoaldosteronism, type i
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudohypoaldosteronism type 1.
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