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Polycystic Kidney Disease

Overview

Polycystic kidney disease (PKD) is a genetic condition where the normal kidney tissue is gradually replaced by multiple fluid-filled sacs called cysts. It is most often inherited in an autosomal dominant manner, which means that the condition can affect several members of the same family. PKD usually progresses slowly over many years but can become complicated by problems, such as cyst infection, bleeding into a cyst, rupture of a cyst, or the formation of stone(s) in the cysts. This may also involve other organs, such as cysts in other organs like the liver, or rare complications like brain aneurysms.

Polycystic kidney disease (PKD) has two main forms, which differ with regard to their genetic inheritance and the age at which symptoms usually appear.

The condition may not cause any symptoms and is often detected during routine imaging or scans for other complaint.

  • Local symptoms include flank pain, a feeling of heaviness or fullness in the abdomen, and high blood pressure due to enlarged kidneys.
  • Systemic symptoms may include fever, abdominal pain, and haematuria (blood in urine), which may occur due to bleeding, rupture, infection, or stone formation within the cysts.

PKD is a genetically inherited condition. The risk increases significantly if a parent, sibling, or close relative has PKD.

The following investigations are typically used to diagnose PKD:

  • Imaging studies: These include ultrasound, CT scan, or MRI of the abdomen to identify the cysts.
  • Genetic testing: It may be performed in select cases to confirm the diagnosis and assess family risk.

The treatments for PKD focus on slowing disease progression, managing complications, and supporting kidney function.

  • Monitoring with regular follow-ups for uncomplicated cases with preserved kidney function to track disease progression.
  • Advanced treatments, such as dialysis or kidney transplantation, may be required in cases that progress to end-stage renal disease.

You should consult a doctor or kidney specialist if any of the following signs or symptoms appear:

  • Pain or discomfort in the sides or back due to enlarged kidneys or cysts
  • Abdominal swelling or a feeling of fullness
  • Blood in the urine (haematuria) from bleeding cysts
  • Urinary tract infections affecting the kidneys
  • High blood pressure (hypertension)
  • Fever, often related to infection of a cyst
  • Fatigue or uneasiness
  • Headaches (can be associated with hypertension or brain aneurysms in rare cases)

As PKD is a genetic condition and cannot be prevented in the classic sense. However, risk reduction and early management are possible through the following:

  • Regular monitoring to detect a decline in kidney function early on
  • Managing blood pressure to slow disease progression
  • Avoiding nephrotoxic drugs or substances that can damage the kidneys
  • Maintaining a healthy lifestyle with proper hydration, balanced diet, and exercise

It is advisable to consult a nephrologist (kidney specialist) for the appropriate evaluation and management of PKD.

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.