OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

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Overview

Familial hyperreninemic hypoaldosteronism type 2 is an extremely rare inherited condition that affects the adrenal glands and how the body manages salt and water balance. In this condition, the body produces too much renin (a hormone made by the kidneys that helps regulate blood pressure) but too little aldosterone (a hormone made by the adrenal glands that helps the body hold onto sodium and get rid of potassium). This imbalance can lead to problems with electrolytes in the blood, particularly low sodium and high potassium levels. Patients may experience symptoms such as low blood pressure, dehydration, muscle weakness, fatigue, and salt craving. In severe cases, dangerously high potassium levels can affect heart rhythm. This entry is now classified as 'OBSOLETE' in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its classification has been updated as scientific understanding has improved. It may now fall under a broader category of familial hypoaldosteronism or pseudohypoaldosteronism. Patients who were previously diagnosed with this condition should consult with an endocrinologist or clinical geneticist to determine the current classification and appropriate management. Treatment typically involves replacing the missing aldosterone with a medication called fludrocortisone and ensuring adequate salt intake. Monitoring electrolyte levels is essential to prevent dangerous complications.

Also known as:

Key symptoms:

Low blood pressureDehydrationHigh potassium levels in the bloodLow sodium levels in the bloodMuscle weaknessFatigue and tirednessSalt cravingPoor weight gain in infantsNausea or vomitingDizziness or lightheadednessIrregular heartbeat due to high potassiumFailure to thrive in young children

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2.

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No actively recruiting trials found for OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 at this time.

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No specialists are currently listed for OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2.

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the current classification of my condition, since this diagnosis is now considered obsolete?,What dose of fludrocortisone do I need, and how often should my electrolytes be checked?,Should I or my family members undergo genetic testing?,What are the warning signs of a dangerous potassium level, and when should I go to the emergency room?,How much extra salt should I include in my diet?,Do I need to take extra precautions during illness, surgery, or physical activity?,Are there any new treatments or clinical trials available for this condition?

Common questions about OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

What is OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2?

Familial hyperreninemic hypoaldosteronism type 2 is an extremely rare inherited condition that affects the adrenal glands and how the body manages salt and water balance. In this condition, the body produces too much renin (a hormone made by the kidneys that helps regulate blood pressure) but too little aldosterone (a hormone made by the adrenal glands that helps the body hold onto sodium and get rid of potassium). This imbalance can lead to problems with electrolytes in the blood, particularly low sodium and high potassium levels. Patients may experience symptoms such as low blood pressure, d

How is OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 inherited?

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.