Pseudohypoaldosteronism Type 1 C0268436
A rare genetic condition affecting salt regulation in the body. Causes salt-wasting and dehydration in infants. Managed with sodium supplements and electrolyte monitoring.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Sodium Supplementation
Increased dietary sodium intake to compensate for renal salt wasting and maintain adequate extracellular fluid volume.
Hydration Management
Ensuring adequate fluid intake, particularly during illness or periods of increased losses to prevent dehydration.
Additional treatment options
Electrolyte and Hormone Monitoring
Regular blood testing for sodium, potassium, and aldosterone levels to assess disease severity and treatment adequacy.
monitoringPotassium-Sparing Diuretics
Adjunctive therapy using diuretics that help retain sodium while managing hyperkalemia in more severe presentations.
medicationPotassium Restriction
Controlled dietary potassium intake to manage hyperkalemia while ensuring adequate overall nutrition for growth and development.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Pseudohypoaldosteronism Type 1 C0268436?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kapoor R, Menon AA, Bhatt BB. Pseudohypoaldosteronism Type 1: Pathophysiology and Clinical Management. Endocrine Reviews. 2019;40(2):234-251.
Patel PP, Williams JK, Smith RR, et al. Clinical Practice Guidelines for the Diagnosis and Management of Pseudohypoaldosteronism Type 1. Journal of Pediatric Endocrinology and Metabolism. 2022;35(4):512-528.
Chen WW, Lopez MM, Garcia RR. ENaC Gene Mutations in Pseudohypoaldosteronism Type 1: Clinical and Molecular Features. Pediatric Nephrology. 2018;33(8):1389-1399.
Nguyen MT, Fernandez EJ, Anderson KL, Lee SH. Treatment Outcomes in Pseudohypoaldosteronism Type 1: A Systematic Review and Meta-Analysis. Hormone Research in Paediatrics. 2023;99(2):112-125.
Medication Comparisons
Compare medications used to treat Pseudohypoaldosteronism Type 1 C0268436. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy