ARPKD (autosomal recessive polycystic kidney disease) is a rare genetic disorder characterized by the growth of cysts on the kidneys and liver, as well as respiratory problems, urinary tract infections, and high blood pressure. It is caused by a defective fibrocystin protein found on the surface of kidney cells.
People with PKDH1 variants produce a defective fibrocystin protein that is abnormally small and non-functional, leading to the characteristic symptoms of ARPKD.
Take this test to find out whether you are a genetic carrier and are at risk of passing a PKHD1 variant to your children.
ARPKD is caused by genetic variation in the PKHD1 gene. This gene gives instructions to produce the fibrocystin protein found on the surface of kidney cells. Fibrocystin plays an important role in the development of the kidneys, and is involved in sensing and relaying messages from the outside of the cell. People with PKDH1 variants produce a defective fibrocystin protein that is abnormally small and non-functional, leading to the characteristic symptoms of ARPKD.
ARPKD is inherited in an autosomal recessive pattern, which means two defective copies of the PKHD1 gene must be inherited in order for the disease to manifest.
This test looks at three genetic variants of the PKHD1 gene that account for ARPKD in approximately 66% of carriers of Finnish descent, 25% of other European carriers, and 22% of Hispanic carriers.
- rs137852944 A (T36M)
- rs137852949 A (R496X)
- rs398124502 deletion (D3230fs)
Understanding your carrier status for these variants will help you understand the risk of passing it to your children.
- Cysts (fluid-filled sacs) on kidneys and liver
- High blood pressure
- Respiratory problems
- Urinary tract infections
- Liver scarring
- Flat nose and large ears.
- Kidneys often fail before adulthood
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.