Adenine Phosphoribosyltransferase (APRT) Deficiency is a rare genetic disorder that can lead to kidney disease and, in severe cases, kidney failure. It’s caused by mutations in the APRT gene, which plays a crucial role in the body’s processing of adenine, one of the four main nucleobases found in DNA. When this gene is defective, adenine accumulates in the body, forming crystals that can damage the kidneys. Understanding the symptoms of APRT Deficiency is crucial for early diagnosis and management of the condition.
Symptoms of APRT Deficiency
The symptoms of APRT Deficiency can vary widely among individuals, ranging from mild to severe. Some people may remain asymptomatic for years, while others develop symptoms in childhood. The most common signs and symptoms include:
- Kidney Stones: One of the earliest and most common symptoms of APRT Deficiency. These are not typical calcium stones but are instead composed of 2,8-dihydroxyadenine (DHA), which is directly related to the disorder.
- Crystalluria: The presence of crystals in urine, which can be an early indicator of the disease. These crystals are often misidentified as uric acid crystals.
- Hematuria: Blood in the urine, which may be microscopic or visible, can occur due to the irritation caused by DHA crystals.
- Renal Colic: Severe abdominal pain caused by kidney stones.
- Chronic Kidney Disease (CKD): Over time, the accumulation of DHA crystals can lead to a decline in kidney function, eventually progressing to CKD.
- Acute Kidney Injury (AKI): In some cases, the kidney damage can be sudden and severe, leading to AKI.
It’s important to note that because the symptoms of APRT Deficiency can be similar to those of other, more common conditions, it is often underdiagnosed or misdiagnosed.
Genetic Testing for APRT Deficiency
To confirm a diagnosis of APRT Deficiency, genetic testing is essential. DNA Labs UAE offers a comprehensive APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test designed to detect mutations in the APRT gene. This test is crucial for individuals who exhibit symptoms of APRT Deficiency or have a family history of the condition. It can also provide valuable information for family planning.
The test is priced at 3200 AED and involves a simple blood draw. The sample is then analyzed in our state-of-the-art laboratory, where our team of experts uses the latest genetic sequencing technologies to identify any mutations in the APRT gene. The process is efficient, and results are provided in a timely manner, allowing for prompt diagnosis and management of the condition.
Why Choose DNA Labs UAE?
At DNA Labs UAE, we are committed to providing accurate, reliable, and confidential genetic testing services. Our laboratory is equipped with cutting-edge technology, and our team comprises highly skilled geneticists and technicians. We understand the importance of timely and precise genetic testing, especially when it comes to conditions like APRT Deficiency, where early diagnosis can significantly impact the quality of life.
By choosing DNA Labs UAE for your genetic testing needs, you can expect personalized care, comprehensive support, and a commitment to excellence. Whether you are seeking testing for APRT Deficiency or any other genetic condition, we are here to provide the answers you need.
For more information about the APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test or to schedule a test, please visit our website or contact us directly.
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