Besides the kidneys, what else can ARPKD affect, and what is the biggest health concern?

  • Kidneys: Once an infant with ARPKD survives the critical neonatal period, kidney failure becomes the next most prominent life threatening issue. Severely enlarged kidneys also further limit lung function by preventing adequate lung expansion. ARPKD affects both kidneys and the liver, so affected children may have very enlarged kidneys and decreased urine production at birth.
  • Lungs: The immediate life-threatening issue for newborns with ARPKD is the severity of lung immaturity. In some newborns with low levels of amniotic fluid (due to low urine production in utero), impaired lung development can result in serious breathing difficulties that require ventilation upon birth, and sometimes can cause death.
  • Blood pressure: High blood pressure is very common in children with ARPKD, and current information indicates that untreated high blood pressure can lead to kidney failure more quickly than if the blood pressure is kept within the normal range with medications.
  • Liver: Children with ARPKD also have a liver abnormality called congenital hepatic fibrosis (CHF) that may lead eventually to enlargement of the liver and spleen. In the liver, this abnormality can lead to a condition called portal hypertension, which can cause increased pressure and varices in the veins around the esophagus, stomach and intestine. In addition, portal hypertension can cause the spleen to enlarge, resulting low red blood cells, white blood cell and platelet counts.