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.
Health + Ancestry Service
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. The Autosomal Recessive Polycystic Kidney Disease Carrier Status report is indicated for the detection of three variants in the PKHD1 gene. This test does not include a large fraction PKHD1 variants that cause ARPKD in any ethnicity.
References
Sweeney et al. (2001). “Polycystic Kidney Disease, Autosomal Recessive”. [Updated 2019 Feb 14].
U.S. National Library of Medicine. (2014). “Polycystic kidney disease.” Genetics Home Reference.
