What is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is group of chronic kidney diseases where thousands of cysts (fluid filled sacs) grow in the kidneys. PKD is the most common inherited kidney disease and is a common cause of Chronic Kidney Disease.

If you have PKD both of your kidneys will be affected but one kidney may develop the cysts earlier than the other. The cysts gradually grow which makes your kidneys larger and reduces the healthy kidney tissue. This makes it harder for your kidneys to work properly.

Some people develop high blood pressure and kidney failure as a result of PKD. PKD affects males and females in equal numbers, and the cysts can appear at any age, depending on the type of PKD.

It is not uncommon for people to develop simple kidney cysts as they become older. Around 50% of people over the age of 50 develop simple cysts. These cysts are not inherited and do not usually require treatment. This fact sheet will discuss PKD which is the inherited type of cyst disease.

Symptoms of Polycystic Kidney Disease

There may be no symptoms of autosomal dominant PKD in the early stages. The cysts usually start growing during the teenage years. As the cysts replace healthy tissue, the outline of the kidneys looks irregular or ‘moth-eaten’.

Symptoms usually develop between the ages of 30 and 40 (but can begin earlier), and may include:

• High blood pressure (may occur before cysts appear)
• Pain in the back or sides
• Headaches
• Back and side pain
• Enlarged and painful abdomen
• Blood in the urine (haematuria)
• Urinary tract infections
• Kidney stones
• Liver, intestine, brain and pancreatic cysts
• Abnormal heart valves
• Abdominal wall hernias
• Reduced kidney function or kidney failure

Causes of Polycystic Kidney Disease

A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called “spontaneous.” Read more about genes and genetic conditions NIH external link.

Diagnosis of Polycystic Kidney Disease

The severe symptoms of autosomal recessive PKD usually result in a prompt diagnosis. However, in most cases of autosomal dominant PKD, for many years there are no signs that a person has the condition.

Physical check-ups or blood and urine tests may not always identify the disease. It is often detected during medical investigations for other health problems, such as urinary tract infections. At other times, the disease isn’t discovered until the kidneys begin to fail.

Diagnosis of PKD may involve a number of tests including:

• Physical examination – can detect symptoms such as high blood pressure or enlarged kidneys
• Blood tests – to assess kidney function
• Urine tests – blood or protein (or both) may be found in the urine
• Ultrasound – a simple, non-invasive test that can identify even quite small cysts

genetic testing – this is not a routine test but may be used for family testing. The presence of the abnormal genetic material can be detected with special blood tests. Genetic counselling is available for affected couples.

What Can I do to Slow Down PKD?

The sooner you know you or your child has PKD, the sooner you can keep the condition from getting worse. Getting tested if you or your child are at risk for PKD can help you take early action.

You also can take steps to help delay or prevent kidney failure. Healthy lifestyle practices such as being active, reducing stress, and quitting smoking can help.

Treatment of Polycystic Kidney Disease

Currently there is no cure for PKD. However, early detection and treatment can reduce or prevent some of the complications of PKD.

Common complications and their treatments include:

High Blood Pressure – controlling high blood pressure is very important. Antihypertensive medication may be prescribed
Pain – may be due to kidney stones, bleeding or infection. Treatment will depend on the cause. Talk to your doctor if you are getting repeated or severe back and kidney pain or headaches. Cysts can sometimes be drained to relieve extreme back and leg pain
Blood in the Urine – fluids, pain-relieving medication, antibiotics and bed rest may be recommended
Urinary Tract Infections – symptoms may include frequent urination, painful urination and fever. Consult with your doctor immediately about treatment with antibiotics. An untreated urinary tract infection can spread to the kidneys
Kidney Failure – this is treated by dialysis, which is a procedure to remove waste products and extra water from the body by filtering the blood through a special membrane. A kidney transplant is another treatment option. PKD does not redevelop in the transplanted kidney.

Can I Prevent PKD?

Researchers have not yet found a way to prevent PKD. However, you may be able to slow PKD problems caused by high blood pressure, such as kidney damage. Aim for a blood pressure goal of less than 120/80. Work with a health care team to help manage your or your child’s PKD. The health care team will probably include a general practitioner and a nephrologist, a health care provider specializing in kidney health.

Self-Care for Polycystic Kidney Disease

Your doctor or healthcare professional will discuss best healthcare choices in managing this condition. Be guided by your doctor. Self-care suggestions for PKD generally include:

Changing your Diet – this may help to manage some symptoms. Dietary changes may include reducing salt, protein, cholesterol (fats) and caffeine. Only make dietary changes after discussion with your doctor or dietitian. Dietary recommendations will depend on your test results
Making Healthier Lifestyle Choices – for example, participate in regular and moderate physical activity and maintain an appropriate weight for your height and build. It is strongly advised that you do not smoke
Avoiding Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) – do not take NSAIDs without medical advice as they can worsen kidney function
Considering Avoiding Contact Sports if your kidneys, liver, spleen or abdomen are enlarged. A strong blow to the belly could injure affected organs.

Reference:

https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/kidneys-polycystic-kidney-disease-pkd