Fanconi Renotubular Syndrome Type 2, also known as Fanconi Syndrome, is a rare genetic disorder that affects the kidneys’ ability to reabsorb essential substances into the bloodstream. This condition is primarily caused by mutations in the SLC34A1 gene, which plays a crucial role in phosphate absorption and regulation in the kidneys. Understanding the symptoms of this disorder is vital for early diagnosis and treatment, and genetic testing can provide a definitive diagnosis. DNA Labs UAE offers a comprehensive genetic test for Fanconi Renotubular Syndrome Type 2, specifically targeting the SLC34A1 gene mutation, at a cost of 4400 AED.
Symptoms of Fanconi Renotubular Syndrome Type 2
Fanconi Renotubular Syndrome Type 2 manifests through a variety of symptoms that primarily affect kidney function. These symptoms can vary significantly among individuals, both in type and severity. Early detection and diagnosis are crucial for managing the condition effectively. The most common symptoms include:
- Excessive urination and thirst: Due to the kidneys’ inability to reabsorb water effectively, individuals may experience polyuria (increased urine production) and polydipsia (increased thirst).
- Electrolyte imbalances: The loss of essential electrolytes, such as potassium, sodium, and bicarbonate, can lead to symptoms such as weakness, fatigue, and irregular heart rhythms.
- Bone pain and weakness: The impaired reabsorption of phosphate can lead to bone demineralization (rickets in children and osteomalacia in adults), resulting in bone pain and weakness.
- Renal tubular acidosis: This condition, characterized by the kidneys’ failure to acidify urine, can lead to metabolic acidosis, a condition where the body produces excessive acid or the kidneys do not remove enough acid from the body.
- Growth retardation in children: Due to the loss of essential nutrients and chronic kidney disease, affected children may experience growth delays.
Genetic Testing for Fanconi Renotubular Syndrome Type 2
Genetic testing plays a pivotal role in diagnosing Fanconi Renotubular Syndrome Type 2. The test specifically looks for mutations in the SLC34A1 gene, which are responsible for the condition. DNA Labs UAE offers this genetic test, providing a definitive diagnosis that can guide treatment and management strategies. The test is priced at 4400 AED and is a critical step for families with a history of the condition or individuals exhibiting symptoms.
Early diagnosis through genetic testing can significantly impact the management of Fanconi Renotubular Syndrome Type 2. It allows for targeted treatment strategies, such as supplementation of lost nutrients and electrolytes, and addresses specific symptoms and complications associated with the disorder. Additionally, genetic counseling can provide affected individuals and their families with valuable information about the condition, its inheritance patterns, and the risks to other family members.
For more information about the SLC34A1 gene Fanconi Renotubular Syndrome Type 2 genetic test and to schedule a test, please visit DNA Labs UAE.
