The ABCB4 gene plays a crucial role in the body, particularly in the liver. It is responsible for producing a protein that helps move bile acids out of liver cells. When there is a mutation in this gene, it can lead to a condition known as progressive intrahepatic cholestasis type 3. This condition is characterized by a reduced flow of bile from the liver (cholestasis), which can cause severe damage to the liver and other complications over time. Understanding the symptoms of this condition is vital for early diagnosis and treatment.
Symptoms of ABCB4 Gene Cholestasis Progressive Intrahepatic Type 3
Individuals with mutations in the ABCB4 gene may exhibit various symptoms, which can vary in severity from person to person. These symptoms often begin in infancy or early childhood, but in some cases, they may not appear until adolescence or early adulthood. The most common symptoms include:
- Jaundice: This is often one of the first signs of the condition, where the skin and whites of the eyes take on a yellowish appearance due to the buildup of bilirubin in the blood.
- Itching (pruritus): Severe itching is a common symptom and is caused by the accumulation of bile acids in the skin.
- Dark urine: The presence of excess bilirubin in the urine can give it a dark color.
- Pale stools: The lack of bile acids in the intestines can lead to stools that are pale or clay-colored.
- Failure to thrive: In children, the condition can lead to poor growth and development due to malabsorption of nutrients.
- Fatigue: This is a common symptom due to the body’s reduced ability to process and eliminate toxins.
Over time, if left untreated, progressive intrahepatic cholestasis type 3 can lead to more severe complications such as liver fibrosis, cirrhosis, and liver failure. Therefore, it is crucial to seek medical attention if you or your child exhibits any of these symptoms.
Genetic Testing for ABCB4 Gene Cholestasis Progressive Intrahepatic Type 3
Genetic testing is a powerful tool in diagnosing conditions like progressive intrahepatic cholestasis type 3. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ABCB4 gene. This test is essential for confirming the diagnosis and can also provide valuable information for family planning and management of the condition.
The cost of the ABCB4 gene cholestasis progressive intrahepatic type 3 genetic test is 3200 AED. This investment in your health or the health of your loved one provides a critical step towards proper diagnosis and treatment planning. Early detection through genetic testing can significantly improve the quality of life and long-term prognosis for individuals with this condition.
For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Understanding and managing genetic conditions like progressive intrahepatic cholestasis type 3 requires access to accurate and comprehensive genetic testing. With DNA Labs UAE, individuals and families have a trusted partner in their journey towards a healthier future.
