Living with Autosomal dominant pseudohypoaldosteronism type 1
An inherited condition in which the body loses too much salt in the urine.
Understanding Autosomal dominant pseudohypoaldosteronism type 1
This is a disorder of electrolyte (body salt) balance. It can cause poor weight gain (failure to thrive) and dehydration. Symptoms usually begin in the newborn period. Some adults have high aldosterone levels (a hormone) but no history of illness.
Signs & symptoms
GARD describes these main features:
- Too much salt lost in the urine
- Poor weight gain (failure to thrive)
- Dehydration
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.
- 3Consider genetic testing
Changes in NR3C2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
It is caused by changes in the NR3C2 gene (the mineralocorticoid receptor gene). It is autosomal dominant with variable expression, so features can differ between people.
Also known as: autosomal dominant pha 1; autosomal dominant pha1; pha i, autosomal dominant; pha1a; pseudohypoaldosteronism type 1, dominant; pseudohypoaldosteronism type i, autosomal dominant
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 Autosomal dominant pseudohypoaldosteronism type 1.
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