Symptoms of KCNJ1 Gene Bartter Syndrome Type 2
Bartter Syndrome is a group of rare inherited disorders characterized by defects in the kidney’s ability to reabsorb sodium. Type 2, specifically caused by mutations in the KCNJ1 gene, leads to a distinct set of symptoms. Understanding these symptoms is crucial for early diagnosis and management of the condition.
The most common symptoms associated with Bartter Syndrome Type 2 include:
- Polyuria and Polydipsia: Excessive urine production and increased thirst due to the body’s inability to reabsorb sodium and water effectively.
- Failure to Thrive: Children with this condition may experience growth retardation and difficulty gaining weight.
- Electrolyte Imbalance: Abnormal levels of potassium, calcium, and chloride in the blood, leading to further complications such as muscle weakness and cramping.
- Dehydration: Despite increased fluid intake, individuals may still suffer from dehydration due to significant fluid loss through urine.
- Alkalosis: A condition characterized by an increase in blood pH, resulting in symptoms such as confusion, muscle twitching, and hand tremors.
Early detection and intervention are essential in managing Bartter Syndrome Type 2. Genetic testing plays a pivotal role in confirming the diagnosis and facilitating appropriate treatment strategies.
KCNJ1 Gene Bartter Syndrome Type 2 Genetic Test
DNA Labs UAE offers a comprehensive genetic test for Bartter Syndrome Type 2, targeting mutations in the KCNJ1 gene. This test is a critical tool for healthcare providers in diagnosing the condition, especially in patients presenting with the aforementioned symptoms.
The test cost is set at 4400 AED, reflecting the advanced technology and expertise involved in identifying the genetic mutation responsible for Bartter Syndrome Type 2. Although the cost may seem significant, early and accurate diagnosis can lead to better management of the condition, potentially reducing long-term healthcare expenses and improving the quality of life for affected individuals.
For more information on the KCNJ1 Gene Bartter Syndrome Type 2 Genetic Test, including how to order the test and prepare for it, please visit DNA Labs UAE.
Understanding the symptoms of Bartter Syndrome Type 2 and the availability of genetic testing can empower patients and their families to seek the necessary medical advice and support. DNA Labs UAE is committed to providing accurate and timely genetic testing services to help in the diagnosis and management of rare genetic conditions like Bartter Syndrome Type 2.
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