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Polycystic kidney disease (ADPKD)

Polycystic kidney disease (ADPKD) is an inherited disease that affects the kidneys and leads to the formation of fluid-filled cysts in the kidney tissue. These cysts gradually increase in size and number, which can impair kidney function and eventually cause chronic kidney failure. In this article, we will review what ADPKD is, what symptoms may occur, the causes behind the disease, how it is diagnosed and what treatment options are available.

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What is polycystic kidney disease (ADPKD)?

ADPKD stands for autosomal dominant polycystic kidney disease and is the most common inherited kidney disease. It is caused by mutations in genes that control the growth and development of kidney cells, most often in PKD1 or PKD2. The disease causes hundreds to thousands of cysts to form in both kidneys, which can cause the kidneys to become severely enlarged and eventually lose their function.

Common symptoms of ADPKD

  • Pain in the back, sides or abdomen – often related to large cysts or infections.
  • High blood pressure – one of the earliest and most common symptoms.
  • Hematuria (blood in the urine) – may be visible or microscopic.
  • Urinary tract infections – especially renal pelvic infections are common.
  • Kidney stones – occur in some patients.
  • Enlarged, palpable kidneys – especially in advanced disease.
  • Gradual decline in kidney function – which in some cases leads to kidney failure.

What causes ADPKD?

The disease is hereditary and follows an autosomal dominant inheritance pattern. This means that a person with a mutated gene has a 50% risk of passing the disease on to their children. In most cases, ADPKD is caused by mutations in:

  • PKD1 (about 85% of cases) – often leads to faster disease development.
  • PKD2 (about 15% of cases) – has a slower course.

In rare cases, the disease can occur spontaneously without a family history (new mutation).

How is the diagnosis made?

Diagnosis is based on a combination of clinical findings, imaging and sometimes genetic testing.

Investigations in case of suspicion of ADPKD:

Imaging
  • Ultrasound – the first step to detect cysts in the kidneys. The number of cysts and the patient's age are used for diagnostic criteria.
  • Computed tomography (CT) or magnetic resonance imaging (MRI) – provides more detailed information about the size of the kidneys, the number of cysts and any complications.
Blood tests
  • S-creatinine – to assess kidney function (GFR).
  • S-urea – to supplement the assessment of the kidneys' excretory capacity.
Urine tests
  • Urine dipstick – may show blood or protein.
  • Urine culture – if infection is suspected.
Genetic testing

Can be used in cases of unclear diagnosis, especially in young patients without clear family history or for family planning.

Treatment of ADPKD

There is currently no cure, but the disease can be slowed down and complications treated. The focus is on protecting kidney function and preventing complications.

Common treatment principles

  • Blood pressure control – ACE inhibitors or ARB are recommended to reduce the risk of kidney failure.
  • Fluid intake – plenty of fluids can prevent cyst growth.
  • Treatment of infections – antibiotics for urinary tract infections or cyst infections.
  • Pain management – ​​for pain from cysts or kidney stones.

Specific drug treatment

Tolvaptan is a drug that slows cyst growth and preserves kidney function in some patients with rapidly progressing disease. It is used under specialist supervision and requires liver function checks.

Advanced renal failure

  • Dialysis treatment – ​​in case of end-stage renal failure.
  • Kidney transplantation – an option for many patients with advanced ADPKD.

Prognosis

ADPKD is a chronic condition with a slow progression. Many patients first experience symptoms in adulthood, and about half develop renal failure by the age of 50–60. Early diagnosis, good blood pressure control and lifestyle measures can delay the development of the disease. Genetic counseling may be appropriate for affected families.

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Medical comment included

With us, you will always receive a doctor’s opinion from a licensed physician when you order a medical check-up that includes a medical opinion. The doctor’s opinion includes an overall assessment of your results from laboratory analysis. The opinion is individual and may vary depending on the specific tests your medical check-up includes.

What can I expect in the medical report?

The medical opinion will summarize the results of your test results to give you an assessment of your health including any abnormalities outside the reference ranges. In case of abnormalities or need, your doctor may also contact you for a free conversation to explain and talk about your results. Remember that a health check always includes specific test results based on your health and your personal circumstances. Values outside the reference range should therefore always be discussed with a doctor before any decisions regarding possible treatment are made.

What does the doctor look at during a health check?

When assessing a blood test or health check, your doctor will look at several different parameters to evaluate your health and identify any abnormalities. Below are some common aspects your doctor may examine:

Blood counts: Your doctor will check red, white and platelet counts to identify any signs of anaemia, infection or bleeding.

Nutrients and biochemical markers: Includes, for example, analysis and monitoring of blood sugar (glucose) levels, electrolyte levels (e.g. sodium, potassium), liver function tests (e.g. liver enzymes), kidney function tests (e.g. creatinine, urea) and lipid profile (e.g. cholesterol, triglycerides). The results of the tests give your doctor a better idea of your organ function, blood sugar level, cholesterol conditions and other important health aspects.

Inflammatory markers: Your doctor may measure health markers such as C-reactive protein (CRP) or red blood cell decrease rate (SR) to evaluate inflammatory conditions or confirm an active infection.

Hormone levels: Your doctor may monitor your hormone levels to assess hormonal imbalances or diseases, such as thyroid hormones (TSH, T3, T4), sex hormones or other specific hormones such as testosterone levels.

Specific tests: Depending on your goal of your health check or medical history, your doctor may look into specific tests to investigate conditions or diseases, such as diabetes, vitamin deficiency or autoimmune diseases.

In conclusion, the doctor weighs all test results based on the health check to assess your overall health, detect any abnormalities and identify possible underlying medical conditions.

What happens if I have abnormal test results?

If your blood count is abnormal, this will be addressed in your personal medical opinion. Depending on the nature and extent of the abnormality, your doctor may also contact you directly through the test result service for further guidance. Various measures and advice will be provided based on the specific abnormalities observed along with your medical history.

  • Checking your kidney function.
  • Test for suspected kidney failure.
  • Health check for your kidney status.

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