What is ARPKD?
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder occurring in approximately 1 in 20,000 children. It affects boys and girls equally and can cause death in the first month of life. If a child with ARPKD survives the newborn period, the chances of survival are good. For these children, approximately one-third will need dialysis or transplantation by the age of 10.
What can I expect if my child has ARPKD?
Previously thought to be a fatal condition, the prognosis for children with ARPKD has improved dramatically. Twenty years ago, only half of the children born with the disease survived to their tenth birthday, but now that percentage has increased to 85. The immediate life-threatening issue for infants with ARPKD is lung immaturity. Lung immaturity is caused in part by insufficient amniotic fluid, produced by the kidneys, due to poor prenatal renal function. Severely enlarged kidneys caused by ARPKD also limit breathing by preventing adequate lung expansion. Death in the neonatal period can be as high as 30 to 50 percent. If an infant with ARPKD survives this critical period, kidney failure can become the most prominent life threatening issue. When the newborn’s life isn’t at risk, the biggest health concerns are often regulating blood pressure and the chemical balance of blood. The improved prognosis for ARPKD may be attributed to improved prenatal sonogram technology which allows doctors to diagnose many cases of ARPKD prior to birth. Accordingly, the birth of an affected child is better planned so the necessary specialists can be alerted. Importantly, the doctors are able to discuss with the parents what they should expect once the baby is born, advising them that the infant may need a breathing tube, may require dialysis, may have severe liver disease, and will require multiple evaluations and treatments to handle associated complications.
How is ARPKD Diagnosed?
Prenatal ultrasounds, prenatal genetic testing, and pre-implantation genetic diagnosis (PGD) can be used to diagnose ARPKD.
What are the symptoms of ARPKD?
There are prenatal symptoms and symptoms immediately after birth. In most cases, children with ARPKD have a progressive loss of kidney function.
What causes ARPKD?
ARPKD is caused by a mutation in chromosome 6 (PKHD1 gene). In recessive disorders such as ARPKD, the child must inherit a copy of the PKHD1 gene from each parent.
What are the related health complications?
ARPKD affects both kidneys and the liver and can impact lung development, blood pressure, and gastrointestinal health.