Living with Pseudohyperaldosteronism type 2
A rare genetic form of severe high blood pressure starting before age 20 and hard to treat with usual medicines.
Understanding Pseudohyperaldosteronism type 2
It runs in families, with severe high blood pressure starting before age 20. Renin and aldosterone hormone levels are low. It is highly resistant to blood pressure medicines. During pregnancy, blood pressure rises sharply and potassium falls, without signs of preeclampsia, and early delivery is needed.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Severe high blood pressure before age 20
- Low renin and aldosterone levels
- Blood pressure that is hard to treat with medicine
- Worse blood pressure during pregnancy
- Low potassium in pregnancy
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, kidney specialists, maternal-fetal medicine specialists and women’s reproductive health 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); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- 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
This condition is caused by changes in the NR3C2 gene that make the receptor overactive. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: early-onset hypertension with exacerbation in pregnancy; hypertension due to gain-of-function mutations in the mineralocorticoid receptor; hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
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 Pseudohyperaldosteronism type 2.
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