ARPKD General Questions

How is ARPKD diagnosed?

Enlarged kidneys typically prompt a test for autosomal recessive polycystic kidney disease (ARPKD). In some babies, a prenatal ultrasound can detect enlarged kidneys as early as 18 weeks after conception. Families may also hear the kidneys look “echogenic” (emitting echo signals) during an ultrasound, which can be an indicator of kidney problems such as ARPKD.

Genetic diagnosis (or pre-implantation genetic diagnosis) is an early form of testing that can detect specific abnormalities in single cells taken from fertilized human embryos. Embryos that are diagnosed as free of the disorder are then placed in the uterus with the intent to initiate a pregnancy; embryos that test positive for the disorder are destroyed. 

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What is the prognosis for children living with ARPKD?

The prognosis for children with ARPKD has improved dramatically over the last twenty years. Approximately 70 percent of newborns diagnosed with ARPKD survive the first month of life, and more than 85 percent survive to their tenth birthday. This is largely thanks to prenatal sonogram technology, which allows for a pre-birth diagnosis of ARPKD and can prepare the healthcare team in proactively treating the child.

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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. 
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Is there a relationship between PKD and cancer?

Although both PKD and cancer involve unregulated cell growth, there is no proven connection between the two diseases. 

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Is PKD contagious? How do other family members get it? 

PKD is not contagious. It is a genetic disease, which means you have it in your chromosomes.

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Where can I get tested to find out if I have PKD?

To find a genetic clinic near you, visit the Canadian Association of Genetic Counsellor's website here

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What are some important questions to ask at the first appointment with our pediatric nephrologist?

If your child has been diagnosed with ARPKD, you probably have many questions. It’s time to take the first steps towards becoming their primary healthcare advocate. Below are some of the most important and common questions you should consider asking at the first appointment. 

  • What is the current renal function? 
  • How can we decrease the progression of CKD? 
  • What are some of the side effects we can expect at this time, and how can we mitigate them? (for example, anemia, hypertension, growth failure) 
  • How is the liver performing? 
  • How often should we check blood pressure, and what is the reading goal? 
  • Are there any dietary of physical restrictions we should be aware of? 
  • What kind of medications will my child need to take? 
  • Should we be concerned with a fever? 
  • What is the timeline for follow up appointments? How often will appointments take place? 
  • Are there any other specialists we should see? 
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What kind of doctor will my child need to see, and how can I find doctors experienced in treating children with ARPKD?

A pediatric nephrologist is a specialist trained in the care of children with kidney diseases, like ARPKD. Children who also show symptoms of liver disease may also need to see a hepatologist, or liver specialist. Your child’s pediatrician will be your first point of reference, and should refer you to an experienced pediatric nephrologist.

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