ARPKD Care
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disease that affects approximately 1 in 20,000 children. The severity of this disease is experienced differently from person to person, even within the same family. ARPKD impacts both the kidney and liver. Some individuals may have more sever kidney disease and other have more severe liver disease (Congenital Hepatic Fibrosis (CHF)). The AR stands for Autosomal Recessive and means that each parent is a carrier of the disease but does not have the disease. This is different from AD (Autosomal Dominant) which in many cases the parent and child both have the disease. Children can have either AR or AD PKD. There are also other forms of Polycystic disease that impact children as well. In the past, it was thought that adults got ADPKD, and children get ARPKD. We now understand that children can have either form of the disease. Even though ARPKD and ADPKD can be diagnosed in childhood, they have different symptoms and complications.
The PKD Foundation funds ARPKD research and supports ARPKD families through education, awareness events, and community connection.
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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.
Most patients are diagnosed in childhood or in utero (before birth) however there are cases of patients being diagnosed in their teens or early adulthood. ARPKD can be diagnosed by findings on physical examination, ultrasound or more commonly by genetic testing. The symptoms vary depending on how severe the kidney or liver disease is. Things like high blood pressure, kidney functions, or large kidneys. Liver symptoms include enlarged liver and spleen, GI Bleeding and rare infections. In a fetus, the kidneys don’t produce enough urine, resulting in low amniotic fluid levels.
ARPKD affects both kidneys and the liver and can impact lung development, blood pressure, and gastrointestinal health.
Page last reviewed November 2022
