What is ARPKD?

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder occurring in approximately 1 in 25,000 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?

ARPKD can cause death in the first month of life. However, almost 80 percent of ARPKD children survive the newborn period. 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 10th birthday, but now, more than 90 percent of children who survive the newborn period reach their 20th birthday and 50 percent of these survivors do not yet require dialysis or transplantation.

The basics

Where can I find support?

The PKD Foundation funds ARPKD research and supports ARPKD families through education, awareness events, and community connection.

How is ARPKD Diagnosed?

Prenatal ultrasounds, prenatal genetic testing, and pre-implantation genetic diagnosis (PGD) can be used to diagnose ARPKD.

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 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.

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What are the related health complications?

ARPKD affects both kidneys and the liver and can impact lung development, blood pressure, and gastrointestinal health.

Page last updated July 2021

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