What is the prevalence of MDR3 Deficiency?
How many people does MDR3 Deficiency affect? Does it have the same prevalence in men and women? And in the different countries?
The prevalence of MDR3 Deficiency, also known as progressive familial intrahepatic cholestasis type 3, is relatively rare. It is estimated to affect approximately 1 in 50,000 to 100,000 individuals worldwide. This genetic disorder primarily affects the liver's ability to transport bile acids, leading to impaired bile flow and subsequent liver damage. Symptoms typically manifest in infancy or early childhood and may include jaundice, itching, and poor growth. Early diagnosis and management are crucial to prevent complications and improve outcomes for affected individuals.
MDR3 Deficiency is a rare genetic disorder that affects the liver's ability to secrete bile into the digestive system. It is caused by mutations in the ABCB4 gene, which encodes the multidrug resistance protein 3 (MDR3). This protein is responsible for transporting phospholipids into bile, a crucial component for the formation of bile acids.
The prevalence of MDR3 Deficiency varies among different populations. In general, it is considered to be a rare condition. Studies have estimated the prevalence to be around 1 in 50,000 to 1 in 100,000 individuals worldwide. However, the prevalence may be higher in certain regions or populations with a higher frequency of specific gene mutations.
MDR3 Deficiency can present in infancy, childhood, or adulthood, with symptoms ranging from mild to severe. These may include jaundice, itching, fatigue, abdominal pain, and liver dysfunction. Diagnosis typically involves genetic testing and evaluation of liver function.
Although MDR3 Deficiency is a rare disorder, early detection and appropriate management are crucial for preventing complications and improving outcomes. Treatment options may include medications to improve bile flow, liver transplantation in severe cases, and supportive care to manage symptoms and maintain liver function.
