Autosomal recessive polycystic kidney disease (ARPKD) leads to fluid-filled cysts clustering in the kidneys, potentially causing kidney failure by age 10 and shortened lifespan.
Most infants with ARPKD exhibit enlarged, cyst-ridden kidneys shortly after birth, hampering kidney function. Without intervention, around 30% of children with ARPKD pass away within their first year, yet treatments like breathing assistance or kidney transplants elevate survival rates to approximately 80% in infants. An ultrasound can often reveal these issues prenatally, alongside potential liver enlargement in 50% of cases. Over 50% of children face kidney failure by age 10, often requiring dialysis or transplantation. Lung underdevelopment in children with ARPKD may result in breathing issues and infections. Individuals with ARPKD commonly experience elevated blood pressure, urinary tract infections, frequent urination, low blood cell counts, back or side pain, varicose veins, hemorrhoids, and diminished stature. Some individuals only manifest symptoms later, mainly liver-related, with milder kidney involvement.
ARPKD is caused by pathogenic (disease-causing) variants in the PKHD1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 57 chance to be a carrier.