Polycystic kidney disease

Overview

When your child has polycystic kidney disease (PKD), fluid-filled cysts grow in the kidneys. These PKD cysts can reduce kidney function, which can lead to kidney failure. There are three types of PKD, all of which are diagnosed and treated by our specially trained multi-disciplinary team.

1. Autosomal dominant PKD (inherited)- "Autosomal dominant" means that if one parent has the disease, there is a 50 percent chance that the disease will pass to any child, and that boys and girls are equally affected.
2. Autosomal recessive PKD (inherited)- “autosomal recessive,” which means that both parents must be asymptomatic carriers for the gene and that 25% of their children may inherit the disease.
3. Acquired cystic kidney disease (non-inherited) Unlike the genetic forms, this form of PKD is not inherited.

Symptoms

ADPKD-

Asymptomatic enlarged kidneys with cysts (often detected by ultrasound)
Detectable abdominal mass
High blood pressure
Hematuria (blood in the urine)
Abnormal heart valves
Cerebral aneurysms (abnormal enlargement of brain blood vessels, often familial)
Uncommon findings in children include: liver and pancreatic cysts, kidney stones, abdominal pain, diverticulosis (abnormal bulging of intestine walls)

ARPKD-

Kidney symptoms:

  • Markedly enlarged kidneys
  • High blood pressure
  • Abnormal kidney function
  • Urinary tract infections
  • Frequent urination


Liver symptoms:

  • Enlarged liver and spleen
  • Bleeding
  • Infections (ascending cholangitis)
  • Abnormal blood counts

Others:

  • Abnormal digestion (leading to poor growth)

Diagnosis

Because the symptoms of ADPKD and ARPKD can resemble other conditions, the Children’s team will first work to establish a definitive diagnosis. We may use imaging techniques, a detailed review of your family history, and genetic testing to help us make the diagnosis. In some cases, ultrasound examinations of relatives’ kidneys may also be helpful.

Treatments

If a positive diagnosis is made, we design a treatment plan specifically for your child, which may include one or more of the following:

  • Monitoring and treatment for high blood pressure
  • Specific dietary modifications
  • Regular monitoring of kidney function, and kidney imaging (ultrasound)
  • Specific guidelines on the use of medications which may adversely affect disease progression Guidelines on participation in athletics, including the use of kidney shields
  • Education; including regular updates of new disease-specific therapies now in clinical trials
  • In rare instances: pain medication, or surgical decompression of enlarged kidney cysts
  • Renal replacement therapies- Dialysis, Kidney transplantation
  • For ARPKD patients- in addition to above- monitoring of liver function, liver transplantation and in some cases combined kidney-liver transplantation is considered.

Specialists:


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