What is ARPKD?

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder occurring in approximately 1 in 25,000 children, equally affecting boys and girls.

ARPKD can come as a scary, overwhelming diagnosis. And while ARPKD can cause death in the first month of life, almost 80% of ARPKD children survive the newborn period. Past that, one-third will need a transplant or dialysis in the first 10 years, however. But that’s no reason to be pessimistic.

The prognosis for ARPKD has changed dramatically—it’s no longer considered a fatal condition. Twenty years ago, only half of the children born with the disease survived to their 10th birthday. Now, more than 90% of children who survive the newborn period reach their 20th birthday and 50% of these survivors do not yet require dialysis or a transplant.

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