Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder characterized by the development of fluid-filled cysts in the kidneys and liver. Unlike the more common autosomal dominant form (ADPKD), ARPKD typically manifests in utero or shortly after birth and tends to be more severe.

In ARPKD, the kidneys become enlarged due to the formation of numerous small cysts in the collecting ducts. The liver develops fibrosis (scarring) and abnormal bile ducts, which can lead to portal hypertension and its complications. The severity of kidney and liver involvement can vary significantly between affected individuals.

Severe cases may be detected during prenatal ultrasound, showing enlarged kidneys with increased echogenicity and reduced amniotic fluid. Newborns with severe ARPKD may have breathing difficulties due to underdeveloped lungs. Children who survive the neonatal period often develop chronic kidney disease, high blood pressure, and growth delays.

The condition is caused by mutations in the PKHD1 gene, which encodes a protein called fibrocystin or polyductin. This protein is important for the normal development and function of kidney tubules and bile ducts. Both parents must carry a mutation for a child to be affected.

NutraHacker examines the following gene related to Autosomal Recessive Polycystic Kidney Disease:

• PKHD1

For more information about your own genetic profile as related to ARPKD, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.