Symptoms of SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder affecting electrolyte balance and blood pressure regulation. It is caused by mutations in the SCNN1A gene among others, leading to an autosomal recessive inheritance pattern. This condition is characterized by the body’s inability to properly respond to aldosterone, a hormone that regulates sodium and potassium levels. Recognizing the symptoms early can be crucial for effective management and treatment.
Key Symptoms of SCNN1A Gene Pseudohypoaldosteronism Type 1
Individuals with PHA1 may exhibit a range of symptoms, primarily stemming from salt loss and imbalanced electrolyte levels. These include:
- Hyponatremia: Abnormally low sodium levels in the blood, leading to lethargy, headache, confusion, and in severe cases, seizures.
- Hyperkalemia: Elevated potassium levels, which can disrupt heart rhythms and potentially lead to cardiac arrest.
- Metabolic Acidosis: A condition where the blood becomes too acidic, which can cause nausea, vomiting, and fatigue.
- Failure to Thrive: Infants with PHA1 may experience poor growth and development due to the chronic electrolyte imbalance.
- Dehydration: Due to excessive loss of salt and water, which can be severe and require emergency medical attention.
- Respiratory Distress: In some cases, the imbalance of electrolytes can lead to difficulty breathing.
Importance of Genetic Testing for SCNN1A Gene Mutations
Genetic testing for mutations in the SCNN1A gene is crucial for confirming the diagnosis of Pseudohypoaldosteronism type 1. This test not only helps in understanding the condition better but also aids in formulating a targeted treatment plan. For families with a history of PHA1, genetic testing can provide valuable information for future family planning.
SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test Cost
The cost for the SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test is set at 4400 AED. This comprehensive test is available at DNA Labs UAE, where a team of experts is ready to provide support and guidance throughout the testing process.
Conclusion
Understanding the symptoms and underlying genetic causes of Pseudohypoaldosteronism type 1 is essential for effective management and treatment of this condition. With the availability of genetic testing, individuals and families can gain insights into their health and make informed decisions. If you suspect you or your family member might be affected by this condition, consider taking the SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test at DNA Labs UAE.
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