Cystinosis is a rare, inherited metabolic disorder where the body accumulates the amino acid cystine within cells. This build-up leads to the formation of crystals that can damage various organs and tissues, especially the kidneys and eyes. The CTNS gene is responsible for this condition, and mutations in this gene lead to the different forms of cystinosis, with nephropathic cystinosis being the most severe and common form. Recognizing the symptoms early can lead to timely intervention, potentially preventing or mitigating organ damage.
Symptoms of Nephropathic Cystinosis
Nephropathic cystinosis typically becomes apparent in infancy and progresses without treatment. The initial symptoms are often related to kidney dysfunction and may include:
- Excessive thirst and urination, leading to dehydration
- Failure to thrive or poor growth
- Rickets (bone weakening) due to renal phosphate loss
- Feeding difficulties
- Acidosis (too much acid in the body fluids)
- Electrolyte imbalances, especially potassium and sodium
As the disease progresses, cystine crystals accumulate in other organs, leading to additional symptoms, such as:
- Photophobia (sensitivity to light) due to cystine crystals in the eyes
- Difficulty swallowing
- Muscle wasting
- Diabetes
- Hypothyroidism
- Neurological complications, though rare, may include seizures and muscle twitching
CTNS Gene Cystinosis Nephropathic Genetic Test
To diagnose cystinosis, a genetic test is conducted to identify mutations in the CTNS gene. This test is critical for confirming the diagnosis, understanding the disease’s progression, and guiding treatment decisions. DNA Labs UAE offers a comprehensive CTNS Gene Cystinosis Nephropathic Genetic Test, which is a pivotal step towards a precise diagnosis and personalized care plan for affected individuals.
Test Cost
The cost of the CTNS Gene Cystinosis Nephropathic Genetic Test at DNA Labs UAE is 4400 AED. This investment in health can be invaluable for families seeking answers to their loved one’s unexplained symptoms, potentially leading to a better quality of life through early and targeted intervention.
Conclusion
Early diagnosis and treatment of nephropathic cystinosis are crucial for managing symptoms and preventing or delaying organ damage. The CTNS Gene Cystinosis Nephropathic Genetic Test provided by DNA Labs UAE is an essential tool in this process. For more information about this test and to schedule an appointment, please visit DNA Labs UAE.
