Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic condition that affects the body’s ability to properly regulate salt balance. This disorder is characterized by the body’s resistance to the action of aldosterone, a hormone that helps regulate sodium, potassium, and water balance. The SCNN1B gene plays a crucial role in this condition, particularly in its autosomal recessive form. Understanding the symptoms and the genetic testing available, including the SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test offered by DNA Labs UAE, is vital for early diagnosis and management.
Symptoms of SCNN1B Gene Pseudohypoaldosteronism Type 1
Individuals with the autosomal recessive form of PHA1 typically present symptoms early in life. These symptoms are primarily due to the body’s inability to properly handle sodium, leading to salt wasting and an imbalance in electrolytes. Key symptoms include:
- Hyponatremia: Abnormally low levels of sodium in the blood, leading to lethargy, headache, nausea, and in severe cases, seizures.
- Hyperkalemia: Elevated levels of potassium in the blood, which can cause muscle weakness, fatigue, and heart rhythm disturbances.
- Dehydration: Due to the excessive loss of salt and water, which can lead to failure to thrive in infants.
- Acidosis: A condition where the blood becomes too acidic, further complicating the electrolyte imbalance.
These symptoms, if left untreated, can lead to severe complications, including life-threatening dehydration and shock. Early diagnosis and treatment are therefore critical.
SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test
DNA Labs UAE offers a comprehensive genetic test for diagnosing the autosomal recessive form of PHA1, specifically targeting mutations in the SCNN1B gene. This test is a crucial step in confirming the diagnosis after the initial clinical assessment and electrolyte analysis. The genetic test not only provides definitive evidence of the condition but also helps in the planning of a personalized management strategy for affected individuals.
The test cost is 4400 AED, which is a valuable investment in accurately diagnosing this rare condition. Early and accurate diagnosis can significantly improve the quality of life for individuals with PHA1 by guiding appropriate treatment and management strategies, including dietary modifications and medications to manage electrolyte imbalances.
For more information about the SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test and to schedule a test, please visit DNA Labs UAE.
Conclusion
Pseudohypoaldosteronism type 1 is a challenging condition that requires early diagnosis and careful management. The symptoms, resulting from the body’s inability to properly regulate salt balance, can lead to severe complications if not appropriately addressed. The SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test offered by DNA Labs UAE is a critical tool in the diagnosis and management of this rare genetic disorder. With a test cost of 4400 AED, it represents a significant step towards ensuring the well-being of affected individuals through accurate diagnosis and personalized care.
