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Living with Pseudohypoaldosteronism, type IB1, autosomal recessive

A condition in which the body loses salt in urine and other fluids, usually starting in the newborn period.

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Understanding Pseudohypoaldosteronism, type IB1, autosomal recessive

Generalized pseudohypoaldosteronism type 1 is a disorder of salt balance with extra salt lost in the urine and high salt in sweat, stool, and saliva.

It affects multiple organ systems and is especially serious in the newborn period. Lab tests may show low sodium, high potassium, and high aldosterone. Children often have respiratory infections.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Dehydration
  • Vomiting
  • Slow weight gain in infancy (failure to thrive)
  • Repeated respiratory infections
  • Low blood volume (hypovolemic shock)
  • High renin and aldosterone levels

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists and kidney specialists.

  3. Consider genetic testing

    Changes in SCNN1A 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
Bring these questions to your next doctor visit
Which of the SCNN1A, SCNN1B, or SCNN1G genes is involved in my child?
How should salt, potassium, and fluids be monitored?
How can respiratory infections be managed?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesSCNN1A

This condition is caused by changes in genes for parts of a sodium channel (SCNN1A, SCNN1B, and SCNN1G). A child inherits a changed copy of the gene from each parent (autosomal recessive).

GeneticKidney

Also known as: autosomal recessive pha 1; autosomal recessive pha1; autosomal recessive pseudohypoaldosteronism type 1; generalised pha1; generalised pseudohypoaldosteronism type 1; generalized pha1

Patient organizations

Source: NIH GARD · Pseudohypoaldosteronism, type IB1, autosomal recessiveGARD ID 4552 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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