Autosomal dominant polycystic kidney disease - Symptoms 

Symptoms of autosomal dominant polycystic kidney disease 

Kidney stones animation

Kidney stones are stone-like lumps that can develop in one or both of the kidneys and may cause severe pain. This animation explains how kidneys function and how to prevent kidney stones. It also describes the procedures used to remove or break down larger kidney stones.

Media last reviewed: 22/11/2013

Next review due: 22/11/2015

Pre-eclampsia

Around one in 100 women who are healthy but carry either the mutated PKD1 or PKD2 gene will develop pre-eclampsia during their pregnancy.

Pre-eclampsia is a relatively common complication of pregnancy where a woman has a rise in blood pressure and an increased level of protein in her urine. Initial symptoms of pre-eclampsia include sudden swelling of the feet, ankles, face and hands.

Read about the treatment of pre-eclampsia.

The main symptom of autosomal dominant polycystic kidney disease (ADPKD) is multiple cysts (fluid-filled sacs) developing in the kidney tissue.

Over time, the number and size of the cysts can increase, thus increasing the size of the kidneys. In some cases, the kidneys of older adults with ADPKD can be three times larger than those of other adults.

Both the cysts and the enlarged kidneys can cause a wide range of symptoms.

Despite the fact that abnormal kidney development is thought to start soon after birth, most people do not have noticeable symptoms for many years. The average age for the onset of noticeable symptoms is 35 for the PKD1 type of ADPKD and 61 for the PKD2 type of ADPKD.

Pain

Pain is often the first noticeable symptom of ADPKD. The pain usually develops in your abdomen (tummy) or side.

The pain can range from moderate to severe. It is usually short-lived, lasting for a few minutes to several days. The causes of pain associated with ADPKD can include:

  • one or more of the cysts starting to bleed
  • a kidney stone getting stuck in your kidney
  • a kidney or other part of your urinary system, such as your bladder, becoming infected – these are known as urinary tract infections (UTIs)

See below for more information about kidney stones and UTIs.

Haematuria

Blood in your urine (haematuria) can be another common initial symptom of ADPKD. Although this can often be a frightening symptom, it is not usually a serious concern because most cases of haematuria pass within a week without the need for treatment.

High blood pressure

In ADPKD, most experts believe that high blood pressure is the first symptom to develop. An estimated one third of children with ADPKD have high blood pressure.

High blood pressure does not usually cause any symptoms and is only usually detected during routine testing. 

Symptoms only occur when it reaches a very high level, which is rare. However, in such circumstances symptoms can include:

Visit your GP as soon as possible if you have any of these symptoms.

Kidney stones

If you have ADPKD, you are more likely to develop kidney stones than the population at large. 

Kidney stones are stone-like lumps that can develop in one or both of your kidneys.

Smaller kidney stones will pass out of your kidneys without causing any symptoms. However, larger stones can get blocked in your kidney or your ureter (the tube that links each kidney to the bladder).

Common symptoms of kidney stones include:

  • intense pain in the back or side of your abdomen or occasionally in your groin – the pain may last for minutes or hours, with pain-free intervals in between
  • feeling restless and unable to lie still
  • feeling sick
  • blood in your urine, which is often caused by the stone scratching the ureter

Urinary tract infections (UTIs)

If you have ADPKD, you are also more likely to develop a urinary tract infection (UTI) compared with the population at large.

UTIs are broadly classified into one of two groups – lower UTIs and upper UTIs.

A lower UTI is an infection that develops inside:

  • your bladder
  • your urethra – the tube that runs from the bladder through the penis (in males) or vulva (in females), through which urine passes

An upper UTI is an infection that develops inside:

  • your kidneys
  • your ureters – the tubes that connect each of your kidneys to your bladder

The symptoms of a lower UTI include:

  • cloudy urine
  • a need to urinate more frequently, either during the day or at night, or both
  • pain or discomfort when passing urine
  • an urgent need to urinate (holding in your urine becomes more difficult)
  • unusually unpleasant smelling urine

The symptoms of an upper UTI include:

  • a high temperature (fever) of 38ºC (100.4ºF) or above
  • uncontrollable shivering
  • feeling sick
  • being sick (vomiting)
  • diarrhoea 

Chronic kidney disease

Almost everyone with the PKD1 type and around half of people with the PKD2 type will lose a significant amount of kidney function. Loss of kidney function caused by kidney damage is known as chronic kidney disease (CKD).

CKD does not usually cause symptoms until it has reached an advanced stage.

The most advanced stage of CKD is called kidney failure or end-stage renal disease. This occurs when the kidneys have lost almost all their ability to function.

Symptoms of kidney failure include:

  • tiredness
  • swollen ankles, feet or hands (due to water retention)
  • shortness of breath
  • blood or protein in your urine
  • an increased need to urinate, particularly at night
  • itchy skin
  • feeling sick
  • impotence in men
  • irregular periods in women

Kidney failure rarely happens suddenly and treatment options should already be in place for you in the event of this happening.

When to seek medical advice

You should contact your GP if:

  • you notice blood in your urine
  • you think you have a kidney stone
  • you think you have an upper UTI

All three of these symptoms are quite common and therefore may not be the result of ADPKD. However, they all require a medical diagnosis.

You should also contact your GP if you have two or more lower UTIs in the space of a year. You may have an underlying condition, such as ADPKD, which makes you more vulnerable to developing a lower UTI.

If a diagnosis of ADPKD is confirmed in one of your first-degree relatives (a parent, a brother or a sister), you may want to talk to your GP about the advantages and disadvantages of being screened for the condition yourself.

See diagnosing autosomal dominant polycystic kidney disease for more information about screening.

Page last reviewed: 13/06/2012

Next review due: 13/06/2014

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