AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD)

About:

• What is it? Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts form inside the kidneys on the walls of hair-sized structures called nephrons, which help to filter out waste from the blood.
  
  
• Symptoms: The most common symptoms include pain in the back and between the ribs and hips, headaches, blood in the urine, high blood pressure, and kidney insufficiency.
  
  
• Cause:
  • ADPKD is caused by mutations in the PKD1 and PKD2 gene, that create proteins for the proper functioning of the kidneys and other parts of the body.
    
    
  • ADPKD is inherited as an autosomal dominant trait in families. This means that if one parent has the disease, there is a 50-percent chance that the disease will pass to a child of either gender.
    
    
  
  
  
• Impact:
  • ADPKD is one of the most common causes of end-stage kidney disease (when kidneys can no longer function properly).
    
    
  • Though a kidney disease, ADPKD can affect other organ systems leading to a multisystem disorder. Organs that can be affected include the liver, pancreas, prostrate and glands of the male reproductive tract.
    
    
  
  
  
• Treatment: Although there is no cure for ADPKD, treatment can ease symptoms and prolong life. Treatment includes dialysis and renal (kidney) transplant.
  
  
• Vulnerable groups: ADPKD was earlier known as adult polycystic kidney disease, since it usually occurs in the fourth or fifth decade of life — but it has been reported in children and infants as well. Both men and women are equally likely to develop this disease.