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Autosomal Recessive Polycystic Kidney Disease

What is autosomal recessive polycystic kidney disease (ARPKD)?

ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition. People with just one variant in the PKHD1 gene are called carriers. They're not expected to have the condition themselves, but they could pass their variant on to their future children.

Causes of ARPKD

ARPKD is caused by variants (differences) in the PKHD1 gene. The PKHD1 gene contains instructions for making a protein called fibrocystin that is primarily found in the kidneys. Although its exact function is unknown, it is thought to play an important role in the development and function of the kidneys. Certain variants in PKHD1 prevent the protein from working properly.

When symptoms develop

Symptoms of ARPKD typically develop before birth or during infancy.

Typical signs and symptoms

  • Kidney disease
  • Liver disease
  • Respiratory problems
  • High blood pressure
  • Urinary tract infections

Ethnicities most affected

ARPKD occurs in people of all ethnicities, but is best studied in people of Finnish, European, Hispanic, Turkish, and Middle Eastern descent. In these ethnicities, about 1 in 70 people is a carrier for ARPKD.

Explore more

You can find out whether you may be a carrier for autosomal recessive polycystic kidney disease through 23andMe. Being a carrier means you have a genetic variant that you could pass down to your future children. 23andMe does not test for all possible genetic variants linked to ARPKD, and individuals who have zero variants detected still have a chance of being a carrier for ARPKD.

23andMe tests for 3 variants in the PKHD1 gene that are linked to ARPKD. The test does not include a large fraction of PKHD1 variants that cause ARPKD in any ethnicity. The Autosomal Recessive Polycystic Kidney Disease Carrier Status report* is available in the 23andMe Health + Ancestry Service.

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