What Your Test Results Mean:

Carriers typically show no symptoms of ARPKD; however, carriers are at an increased risk of having a child with ARPKD. Risk for the current or future pregnancies is dependent your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

ARPKD is an inherited condition of early-onset liver and kidney problems. Symptoms include polycystic kidneys, high blood pressure, abdominal pain, recurrent urinary tract infections, and liver disease. Approximately 10% of children surviving the neonatal period will require liver transplantation. Over 50% will develop end stage renal disease in the first decade of life. Dual liver and kidney transplantation has proven successful.

How the Genetics Works:

ARPKD is an autosomal recessive disorder that can be explained by pathogenic variants in the PKHD1 gene. In general, individuals have two copies of the PKHD1 gene. Carriers of ARPKD have a single variant in one copy of the PKHD1 gene while individuals with ARPKD have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.