Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that primarily affects the kidneys and the liver and is characterized with formation and uncontrolled growth of fluid-filled cysts in the kidney, the spread of which eventually leads to the loss of kidney function.

ARPKD is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the responsible gene for their child to develop the condition. If both parents are carriers of the ARPKD gene mutation, there is a 25% chance with each pregnancy that their child will have ARPKD.

 ARPKD develops during prenatal development, or in early childhood. It is often diagnosed in infancy or childhood, but the severity and onset of symptoms can vary widely among affected individuals. The primary cause of ARPKD is mutations in the PKHD1 gene encoding the fibrocystin. The fiborcystin is localized in the primary cilia and basal bodies in kidney epithelial cells and participates in the organization of microtubules and/or mechano-and chemo-sensibilization of primary cilia, as well as in regulation of intracellular adhesion and cell proliferation.

ARPKD is a complex and challenging condition that requires ongoing medical care and support.

The webinar has been presented by Max Liebau, Nephrologist at University Hospital of Cologne (Germany), on May 5, 2020.