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 diagnosis 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 tranplant.
ARPKD Patient Database
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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