Renal Tubular Dysgenesis (RTD) is a rare, autosomal recessive disorder that primarily affects the kidneys. It is characterized by a lack of development (dysgenesis) of the kidney’s proximal tubules, leading to oligohydramnios (low amniotic fluid), which can result in fetal growth restriction and a spectrum of severe clinical manifestations post-birth. The AGT gene plays a crucial role in this condition, and understanding the symptoms of AGT gene mutations is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for AGT Gene Renal Tubular Dysgenesis, priced at 3200 AED, to help in the diagnosis of this condition.
Symptoms of AGT Gene Renal Tubular Dysgenesis
The symptoms of AGT Gene Renal Tubular Dysgenesis are often severe and can be noticed before birth or immediately after. They include:
- Oligohydramnios: This condition, characterized by low amniotic fluid, can be detected during prenatal ultrasounds. It is a direct consequence of the decreased urine output from the fetus, which is a hallmark of RTD.
- Pulmonary Hypoplasia: Due to the reduced amniotic fluid, the fetal lungs may not develop fully, leading to pulmonary hypoplasia. This condition is a significant cause of respiratory distress and morbidity in newborns with RTD.
- Potter Sequence: The physical appearance characterized by a wide and flattened nose, recessed chin, and large, low-set ears can be observed in newborns due to oligohydramnios and the resulting compression of the fetus.
- Renal Failure: The core issue in RTD is the underdevelopment of the renal tubules, which leads to immediate renal failure after birth. This condition necessitates prompt and aggressive management to support the newborn’s renal function.
- Hypotension: Infants with RTD often suffer from severe hypotension (low blood pressure), which can be challenging to manage and requires careful medical intervention.
- Anuria or Oliguria: The impaired kidney function results in either no urine output (anuria) or minimal urine output (oliguria), further complicating the management of fluid and electrolyte balance in affected newborns.
Early detection and diagnosis of AGT Gene Renal Tubular Dysgenesis are crucial for managing these symptoms and improving the quality of life for affected individuals. DNA Labs UAE provides a genetic test specifically designed to identify mutations in the AGT gene, which is a significant step towards a definitive diagnosis.
AGT Gene Renal Tubular Dysgenesis Genetic Test at DNA Labs UAE
The genetic test for AGT Gene Renal Tubular Dysgenesis offered by DNA Labs UAE is a comprehensive analysis aimed at identifying mutations in the AGT gene that are associated with this condition. Priced at 3200 AED, this test is an invaluable tool for families seeking answers to unexplained renal issues in their newborns. The process involves collecting a small sample of blood or saliva, which is then analyzed using advanced genetic sequencing technologies to detect any mutations in the AGT gene.
Early diagnosis through genetic testing can significantly impact the management and treatment options for infants with RTD. It provides families and healthcare providers with crucial information that can guide treatment decisions and support services, ultimately leading to better outcomes for the affected children.
For more information about the AGT Gene Renal Tubular Dysgenesis Genetic Test and to schedule a test, please visit DNA Labs UAE.
