Diarrhea type 3 secretory sodium congenital syndromic, often referred to as congenital sodium diarrhea (CSD), is a rare genetic disorder that affects the body’s ability to properly absorb sodium through the intestines. This condition is caused by mutations in the SPINT2 gene, which plays a crucial role in the regulation of sodium channels in the intestinal lining. Individuals with this disorder experience severe, life-threatening diarrhea from birth, which leads to dehydration, electrolyte imbalance, and failure to thrive without appropriate medical intervention.
The symptoms of this condition are profound and can significantly impact the quality of life of those affected. They typically present immediately after birth and include watery diarrhea, dehydration, poor weight gain despite adequate feeding, and failure to thrive. In some cases, affected individuals may also experience additional symptoms such as vomiting, fever, and lethargy. Due to the severe dehydration and electrolyte imbalances that can occur, this condition requires prompt and ongoing medical management.
Understanding the genetic basis of this disorder is essential for accurate diagnosis and management. The SPINT2 gene plays a vital role in the body’s ability to absorb sodium, and mutations in this gene disrupt this process, leading to the symptoms associated with the condition. Genetic testing for mutations in the SPINT2 gene can provide definitive diagnosis of diarrhea type 3 secretory sodium congenital syndromic. This testing is crucial for guiding treatment decisions and for providing accurate information regarding prognosis and the risk of recurrence in future pregnancies.
DNA Labs UAE offers a comprehensive genetic test for the SPINT2 gene, designed to identify mutations associated with diarrhea type 3 secretory sodium congenital syndromic. The cost of the test is 4400 AED. This test is a valuable tool for families seeking answers about this rare condition and for healthcare providers managing patients with persistent, unexplained diarrhea. By confirming the diagnosis through genetic testing, families and healthcare providers can make informed decisions about the best course of treatment and management for affected individuals.
For more information about the SPINT2 gene diarrhea type 3 secretory sodium congenital syndromic genetic test, or to schedule a test, please visit our website. DNA Labs UAE is committed to providing accurate, timely, and comprehensive genetic testing services to help families and healthcare providers better understand and manage rare genetic disorders like diarrhea type 3 secretory sodium congenital syndromic.
- Severe, life-threatening diarrhea from birth
- Dehydration and electrolyte imbalance
- Poor weight gain and failure to thrive
- Potential for additional symptoms such as vomiting, fever, and lethargy
- Importance of genetic testing for accurate diagnosis and management
With the cost of the test at 4400 AED, DNA Labs UAE provides a crucial resource for individuals and families affected by this rare condition. Early diagnosis and intervention are key to managing the symptoms associated with diarrhea type 3 secretory sodium congenital syndromic and improving the quality of life for those affected. By offering this specialized genetic test, DNA Labs UAE plays a vital role in the ongoing care and management of patients with this rare genetic disorder.
