Focal Segmental Glomerulosclerosis (FSGS) is a disease that attacks the kidney’s filtering units (glomeruli) causing serious scarring which leads to permanent kidney damage and even failure. FSGS can be caused by a variety of factors, including genetic mutations. One such genetic mutation involves the TRPC6 gene, which has been linked to a form of the disease known as FSGS Type 2. Understanding the symptoms of this genetic condition is crucial for early diagnosis and treatment.
Symptoms of TRPC6 Gene Focal Segmental Glomerulosclerosis Type 2
TRPC6 gene mutations lead to a specific form of FSGS, which manifests through several symptoms. These symptoms can vary in severity and onset, but generally include:
- Proteinuria: Excessive protein in the urine, which is one of the earliest signs of kidney damage.
- Swelling or Edema: Particularly in the legs, feet, ankles, and sometimes the face and hands, due to fluid retention.
- Fatigue: A result of toxins building up in the blood due to the kidney’s reduced ability to filter waste.
- Foamy Urine: Due to the high protein content in the urine.
- Hypertension: High blood pressure is both a symptom and a cause of further kidney damage.
It is important to note that these symptoms can also be indicative of other conditions. Therefore, a genetic test for the TRPC6 mutation can provide a definitive diagnosis of FSGS Type 2.
TRPC6 Gene Focal Segmental Glomerulosclerosis Type 2 Genetic Test
The genetic test for TRPC6 gene mutation is a critical step in diagnosing FSGS Type 2. This test examines the DNA to identify mutations in the TRPC6 gene that are known to cause the disease. Identifying a mutation in this gene can confirm the diagnosis of FSGS Type 2, allowing for targeted treatment strategies that can slow the progression of the disease and manage symptoms more effectively.
The cost of the TRPC6 Gene Focal Segmental Glomerulosclerosis Type 2 Genetic Test is 4400 AED. While the cost may seem high, the value of a definitive diagnosis cannot be overstated. Early diagnosis and treatment are crucial for managing the disease and improving quality of life.
For more information on the TRPC6 Gene Focal Segmental Glomerulosclerosis Type 2 Genetic Test, including how to order the test, please visit DNA Labs UAE.
In conclusion, FSGS Type 2 caused by TRPC6 gene mutations presents with specific symptoms that require attention for early diagnosis. The genetic test for this condition is an invaluable tool for confirming the diagnosis and facilitating timely and effective treatment. If you or a loved one are experiencing symptoms associated with FSGS, consider speaking with a healthcare provider about the possibility of genetic testing.
