Polycystic kidney disease

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. It can also cause cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain.

There are three types of PKD, all of which are diagnosed and treated by our specially trained multi-disciplinary team.

Autosomal dominant PKD (inherited)

About autosomal dominant PKD (ADPKD)

The most common form of inherited PKD ADPKD affects over 13 million people worldwide. "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. While ADPKD is often called “adult polycystic kidney disease,” with symptoms developing between the ages of 30 and 40, it also develops in childhood and may rarely cause severe symptoms even in neonates. Approximately 8-10% of cases are caused by new mutations, meaning there is no family history of disease.

Symptoms of ADPKD in children include:

  • 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). Autosomal dominant PKD may rarely occur with other conditions including: Tuberous sclerosis (a genetic syndrome which in addition to features of ADPKD involves vascular lesions of the kidneys, seizures, mental retardation, benign tumors and characteristic skin lesions)

Diagnosis & treatment of ADPKD

Because the symptoms of ADPKD 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.

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
  • Dialysis
  • Kidney transplantation

Autosomal recessive PKD (inherited)

About autosomal recessive PKD (ARPKD)

ARPKD is an uncommon genetic disorder affecting 1 in 20,000 children. It is “autosomal recessive,” which means that both parents must be asymptomatic carriers for the gene and that 25% of their children may inherit the disease. Approximately 1 in 70 individuals are carriers who have no symptoms of disease. ARPKD affects boys and girls equally, and can sometimes be detected before birth using a fetal ultrasound, or in parents who have had a previous child with ARPKD, by pre-natal genetic diagnosis.

Symptoms of ARPKD can begin during the fetal period, and cause a high risk pregnancy characterized by low amounts of amniotic fluid (oligohydramnios). ARPD causes a basic developmental abnormality of the developing kidney and liver. Children with ARPKD can therefore demonstrate symptoms of kidney and/or liver disease.

Approximately 70% of children with ARPKD demonstrate symptoms as newborns or within the first 6 months of life. The remaining 30% commonly present during childhood or uncommonly, during adolescence. Rarely, ARPKD may present in young adults.

Children who are diagnosed as neonates or young infants have a 50% possibility of developing kidney failure by age 10. Symptoms of ARPKD reflect both kidney and liver disease. Younger children predominantly demonstrate kidney symptoms, while older children have a tendency to demonstrate symptoms of liver disease.

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
  • Abnormal digestion (leading to poor growth)

Autosomal recessive PKD (ARPKD) diagnosis & treatment

As with ADPKD, the symptoms of autosomal recessive PKD can resemble a number of other conditions, so correct diagnosis is critical. At Children’s, our specially trained team establishes a diagnosis with a thorough evaluation that includes a comprehensive history and exam, imaging of the kidneys and/or liver, evaluation of kidney function, and may include genetic testing.

If your child is diagnosed with ARPKD, we develop an individual treatment plan which includes coordination between kidney, liver, and genetic specialists on our multidisciplinary team. It may include:

  • Monitoring and treatment for high blood pressure
  • Monitoring and treatment for urinary tract and liver infections
  • Specific dietary modifications
  • Regular monitoring of kidney and liver imaging and function
  • Education about the disease progress, including updates and possible inclusion in future disease-specific clinical trials
  • Dialysis
  • Kidney and liver transplantation

Acquired cystic kidney disease (non-inherited)

About acquired cystic kidney disease (ACKD)

Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in children who have kidney failure and who have been on dialysis for a long time. Unlike the genetic forms, this form of PKD is not inherited. It tends to occur later in life than other forms of polycystic kidney disease in a very specific sub- population of children.

Acquired cystic kidney disease (ACKD) treatment

Diagnosis is usually established in the at-risk population through imaging studies. Therapy includes careful observation, longitudinal monitoring, and surgical intervention when needed.