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Autosomal dominant polycystic kidney disease (ADPKD)

  • ADPKD is a genetic condition that causes multiple cysts to develop in the kidneys, most commonly developing between 30-60 years of age.
  • It is a condition that can affect multiple organs, with cysts in the kidney, liver and pancreas. Other features include intracranial and aortic aneurysms and mitral valve prolapse.
  • One in 800 people are born with ADPKD and it is the most common genetic condition affecting the kidneys.

Clinical features

Clinical symptoms associated with the development of cysts in the kidney include:

  • high blood pressure (hypertension);
  • abdominal or loin pain; and
  • blood in the urine (haematuria) or recurrent urinary infections.

The symptoms of ADPKD can range from mild to severe. Other features of the condition include:

  • aortic aneurysms;
  • brain aneurysms;
  • cysts in the liver, pancreas, and seminal vesicles; and
  • abdominal wall hernia.
As many as half of people with ADPKD have cysts in the liver.

Diagnosis

  • Usually an extensive family history (in 95%), as it is an autosomal dominant condition (new mutations occur in about 5% of people with the condition).
  • Abdominal palpation to detect enlarged kidneys or liver.
  • Ultrasound examination to visualise the kidneys.
  • DNA testing for mutation analysis.

Genetic basis

Two genes are known to be associated with ADPKD:

  • PKD1, on chromosome 16, accounts for 85% of cases.
  • PKD2, on chromosome 4, accounts for 15% of cases.

Both of the sub-types of ADPKD have the same symptoms, although PKD1 tends to be more severe. Some research studies have suggested there may be a third gene PKD3, but this had not been isolated in April 2012.

Clinical management

  • The primary focus is the management of the side effects of the cyst developments and renal failure. Progressive damage to the kidneys can result in the kidneys losing all or nearly all their function. About 60% of people with ADPKD will have end-stage renal failure by the age of 60. Therefore dialysis or a kidney transplant may be required.
  • Another serious problem facing people with ADPKD is that the high blood pressure associated with the condition increases their risk of developing cardiovascular disease (CVD), which can also lead to stroke and intracranial aneurysms. Hypertension management is difficult in these patients. Prompt management of urinary infections is required, as cyst infection is difficult to eradicate.

Genetic testing

  • Renal ultrasound scan to identify the formation of cysts. This is an example of how an investigation other than those that look directly at the genetic material can support a genetic diagnosis. Although the scan can confirm the diagnosis, it may not be possible to exclude that someone has inherited the condition if the person is not at an age where the cysts have developed. The scan may therefore need to be repeated.

 

This information is intended for educational use and was current in August 2013. For clinical management, it is recommended that local guidelines and protocols are used.