Polycystic Kidney Disease - Fact sheet - Kidney Health Australia
←
→
Page content transcription
If your browser does not render page correctly, please read the page content below
Last Reviewed March 2019
Page 1
Prevent, Detect, Support.
Fact sheet
Polycystic Kidney
Disease
Polycystic kidney disease (PKD) is Some people develop high blood
group of chronic kidney diseases pressure and end stage kidney disease
where thousands of cysts (fluid filled as a result of PKD. PKD affects males
sacs) grow in the kidneys. PKD is and females in equal numbers, and
the most common inherited kidney the cysts can appear at any age,
disease and is a common cause of depending on the type of PKD.
Chronic Kidney Disease.
It is not uncommon for people to
If you have PKD both of your kidneys develop simple kidney cysts as they
will be affected but one kidney may become older. Around 50% of people
develop the cysts earlier than the over the age of 50 develop simple
other. The cysts gradually grow cysts. These cysts are not inherited
which makes your kidneys larger and and do not usually require treatment.
reduces the healthy kidney tissue. This This fact sheet will discuss PKD which
makes it harder for your kidneys to is the inherited type of cyst disease.
work properly.
The different types of PKD
PKD is an inherited disease. This There are two different types of PKD:
means it is passed from parents to
Autosomal Dominant PKD (ADPKD) Autosomal Recessive PKD (ARPKD)
their children.
This is the most common form of This is a much less common form
However not all people with PKD will PKD. People with ADPKD will develop of PKD. This is typically a childhood
have a family history. multiple fluid filled cysts in their disease which is often diagnosed soon
kidneys, liver, pancreas and other after birth. Both parents must have
organs. ADPKD is inherited from your the faulty gene, with the risk of one in
parent. There is one in two chance four chance of passing the gene onto
of passing the faulty gene onto your each of their children. ARPKD can lead
children. Cysts can often be detected to kidney failure and/or liver problems
between the ages of 18-35 years. later in life.
This affects both males and females
equally and can sometimes lead to
kidney failure later in life.
Connect with us www.kidney.org.au Freecall 1800 454 363Kidney Health Australia Polycystic Kidney Disease Last Reviewed March 2019
Prevent, Detect, Support. Page 2
Symptoms of Autosomal Dominant PKD
If you have ADPKD you may have no Symptoms usually develop when • enlarged and painful abdomen
symptoms in the early stages. The someone is 30-40 years of age, but can (belly area)
kidney cysts usually start forming in be later in some people.
• urinary tract infections
childhood but they are microscopic
Symptoms may include:
(and almost invisible to detect) and • kidney stones
they grow very slowly so its takes • the need to pass urine more often
• hernias
many years before they can be (polyuria), sometimes during the
detected by renal ultrasound. night (nocturia) • cysts in other organs, most
commonly in the liver
In those who show no symptoms, • pain in your back or side
ADPKD can often be found • abnormal heart valves
• blood in your urine (haematuria)
accidentally while having scans or • intracranial aneurysm (weakened
x-rays for other reasons, through • high blood pressure
spot in the blood vessels of the
screening those with a positive family • reduced kidney function or kidney brain)
history or having early signs of chronic failure – about half of people with
kidney disease such as abnormal PKD will have kidney failure by 60
urine, high blood pressure or an years of age, but can be considerably
abnormal kidney function blood test. later in some people
Symptoms of Autosomal Recessive PKD
If you have ARPKD the cysts can Symptoms and signs of ARPKD in Other complications may include:
develop in the early months of life or severely affected babies include:
• failure to thrive – below average
even before birth. Children with ARPKD
• reduced fluid surrounding the baby growth and weight gain as a baby
may have reduced kidney function,
in the uterus which can lead to the
which may lead to end stage kidney • increased blood pressure in the liver
baby having an unusually shaped
disease, or liver problems.
face • blood in the urine
• delayed or difficult childbirth • high blood pressure
• high blood pressure • anaemia - low red blood cells
• swelling of the abdomen (belly area)
due to enlarged kidneys, liver and
spleen
• heart and lung defects
• kidney failure at birth or in the first
few weeks of life
How is PKD diagnosed?
The severe symptoms of ARPKD Diagnosing PKD usually considers age, Blood tests - used to measure your
usually means the condition is having a positive family history of PKD kidney function.
diagnosed early. But in less severe combined with an ultrasound. To be
Urine tests - used to look for blood
PKD, health problems may not be seen diagnosed with PKD, there must be a
and/or protein in your urine.
for many years. It is often found during certain number of cysts shown on the
medical checks for other problems, ultrasound. Further testing may then
such as urinary tract infections or be performed, including:
kidney stones. Sometimes it isn’t
Physical examination - used to look
found until high blood pressure or
for high blood pressure or enlarged
kidney failure develops.
kidneys. Ultrasound Blood test Urine Test
Connect with us www.kidney.org.au Freecall 1800 454 363Kidney Health Australia Polycystic Kidney Disease Last Reviewed March 2019
Prevent, Detect, Support. Page 3
PKD will be diagnosed in at-risk people with a family history of PKD if:
Age Number of cysts shown on ultrasound
15-39 years At least 3 in total
Aged 40-59 years At least 2 in each kidney
Aged 60 years or older At least 4 in each kidney
How is PKD treated?
Initial treatment for PKD is usually Lifestyle - Undertake physical activity, Treatment will depend on the cause.
through lifestyle management and find something that you enjoy. Not Fluids, pain killers, antibiotics and rest
modification. Lifestyle changes only will regular exercise help you may be needed.
together with good blood pressure reach and maintain a healthy weight,
Urinary tract infections - Urinary
control have been shown to slow the but it will reduce the risk of other
tract infections can spread to the
growth of kidney cysts. For many complications.
cysts in the kidneys, so see your
people this may be the only treatment
Smoking - If you smoke, stop. This doctor immediately about antibiotic
they require.
is an important habit to change to treatment.
There are several trials being slow the progression of PKD and
End Stage Kidney Disease - This
conducted for new medications associated complications. If you need
usually develops very slowly over
for the treatment for PKD, these tips to help you quit, call the Quitline
many years and may require dialysis or
medications may slow the progression on 13 7848 or speak to your doctor.
a transplant. PKD does not redevelop
of PKD but currently there is no cure
High blood pressure - Good blood in a transplanted kidney.
for PKD.
pressure control protects kidney
Medication - In some cases of ADPKD,
Achieving and maintaining a healthy function and can assist in slowing the
an oral medication is now available
weight is extremely important in the growth of renal cysts. Medications and
to be used to slow the progression of
treatment and management of PKD. a healthy lifestyle can help to lower
cyst development and kidney disease
blood pressure.
Diet - Changes to your diet may be in adults.
required, including reducing dietary Pain - May be due to stones, bleeding
Support - Many patients diagnosed
salt, protein, cholesterol (fats), alcohol or infection. Treatment will depend on
or living with PKD can experience
and caffeine. Any dietary changes the cause. Talk to your doctor if you
some feelings of sadness and anxiety
should be discussed with your doctor are getting repeated or severe back
due to the diagnosis. There is support
or Accredited Practising Dietitian. and kidney pain or headaches. Cysts
available to help patients along their
can sometimes be drained to relieve
See our fact sheets on self- journey and to help them be informed
extreme back and leg pain.
management and nutrition for more about their disease. Our Kidney Helpline
information about how to look after Blood in the urine - May also be due can provide further guidance. Freecall
your kidneys. to kidney stones, bleeding or infection 1800 454 363.
What can I do to prevent New treatments
PKD complications? There are several promising A new medication has recently
If your kidneys, liver, spleen and developments in slowing or preventing been approved and PBS listed for
abdomen are significantly enlarged, cyst growth and decline in eGFR in the treatment of adults with early
you may need to think about not PKD. Trials are being done in Australia stage CKD (stage 2 to 3) and rapidly
playing contact sports, as an injury with medications that may stop the progressing ADPKD. It has been
to the belly area can damage your sacs filling up with fluid. Results from shown to slow the progression of cyst
affected organs. All contact sports worldwide studies have showed development and kidney disease in
should be discussed with your doctor. promising results for medications ADPKD. Your kidney specialist can
which slow or stop cyst growth and keep you updated on new treatments
Non-steroidal anti-inflammatory slow the drop of kidney function. and whether they are right for you.
medications (NSAIDs) should not be
taken without medical advice as they
can make your kidney function worse.
Connect with us www.kidney.org.au Freecall 1800 454 363Kidney Health Australia Polycystic Kidney Disease Last Reviewed March 2019
Prevent, Detect, Support. Page 4
Should my family members be tested for PKD?
Knowing whether to screen family of screening and help you to make the
members is a complex and personal best decision for you and your family.
issue. If ultrasound findings are
There are both advantages and
unclear and it is necessary to
disadvantages to screening family
completely rule out PKD, then genetic
members, some of the issues that you
testing may be offered.
may want to consider are:
Genetic testing involves a medical
test that identifies changes in
chromosomes, genes and proteins.
Pre-screening counselling is available
to provide further information about
genetic testing and support to help
you make a decision about testing of
PKD. A genetic counsellor will be able
to talk to you about the pros and cons
Advantages Disadvantages
•P KD can be detected early; • A positive diagnosis may cause
• Early detection can lead to better feelings of sadness, frustration and
treatment options of PKD; stress;
• A positive diagnosis may present
• Early detection can slow the
challenges with insurance and
decline of kidney function;
employment.
• PKD can be considered in family
planning.
Who should I contact for more information?
Kidney Health Australia operates a The PKD Foundation of Australia Kidney Health Australia – Caring for
free call kidney helpline for people connects, supports and provides Australasians with Renal Impairment
seeking more information about kidney education for Australians and (KHA-CARI) provides clinical
disease and related conditions. You can their families affected by PKD. The guidelines based on best evidence
contact the helpline on 1800 454 363. PKD Foundation also raises funds based practice for patients with kidney
specifically to find a cure for PKD. disease in Australia and New Zealand.
Further information can be found on Further information can be found on
their website pkdaustralia.org the website cari.org.au
THINGS TO REMEMBER
• Polycystic kidney disease (PKD) is an inherited condition
which leads to the growth of cysts on the kidneys.
• You may have no symptoms or health problems for many years.
• At the moment there is no cure for PKD, but early detection
and treatment can reduce or prevent some complications
of PKD.
Connect with us www.kidney.org.au Freecall 1800 454 363Kidney Health Australia Polycystic Kidney Disease Last Reviewed March 2019
Prevent, Detect, Support. Page 5
What does that word mean?
Anaemia - When there are only a small Gene - Each cell in the human body Magnetic resonance imaging (MRI) -
number of red blood cells in the blood contains about 25,000 to 35,000 An imaging procedure that uses a
or the blood cells are not working genes. Genes carry the information magnetic field and radio wave energy to
properly. Red blood cells carry oxygen, that determines your traits, which are make detailed pictures or scans of areas
so if you have anaemia you can feel features or characteristics that are inside your body.
weak, tired and short of breath. passed on to you or inherited from
Non-steroidal anti-inflammatory drugs
your parents.
Blood pressure - The pressure of the (NSAIDs) - Medications often used to
blood in the arteries as it is pumped Haematuria - The medical term for reduce pain and inflammation (swelling
around the body by the heart. blood in your urine. and redness). Some commonly used
NSAIDs include aspirin (in brands like
Chromosomes - The structures that Hernias - When parts of tissue or
Disprin), ibuprofen (such as Nurofen),
carry your DNA. We usually have 23 organ exit the weak parts of the
naproxen (such as Naprosyn), diclofenac
pairs. abdomen.
(such as Voltaren) and celecoxib (such
Computed tomography - An imaging Genetic counsellor - Someone trained as Celebrex).
procedure that uses special x-ray to help people understand and
Ultrasound - An imaging procedure
equipment to create a series of make decisions around the medical,
where an instrument is moved over
detailed pictures or scans of areas psychological and reproductive
the skin, sending and receiving signals
inside your body. effects of genetic conditions. See
to make pictures of your kidneys and
The Australian Society of Genetic
Cyst - A sack full of fluid. bladder.
Counsellors hgsa.org.au/asgc for more
eGFR - An estimation of glomerular information. Urinary tract infection – Causes
filtration rate (GFR). GFR is the best symptoms like needing to urinate
Inherited - Passed to you by your
measure of kidney function and helps to frequently or pain when urinating. It is
parents. This can include personality
determine the stage of kidney disease. caused by bacteria and may need to be
traits, physical appearance and some
treated.
health conditions.
For more information This factsheet is intended as a general
introduction to this topic and is not
If you have a hearing
about kidney or urinary meant to substitute for your doctor’s or
health professional’s advice. or speech impairment,
health, please contact All care is taken to ensure that the contact the National
information is relevant to the reader
our free call Kidney and applicable to each state in
Relay Service on
Australia. It should be noted that 1800 555 677 or
Helpline on 1800 454 363. Kidney Health Australia recognises
relayservice.com.au
that each person’s experience is
Or visit our website individual and that variations do occur
in treatment and management due to
For all types of services
ask for 1800 454 363
kidney.org.au to access personal circumstances, the health
professional and the state one lives in.
free health literature. Should you require further information
always consult your doctor or health
professional.
Kidney Health Australia gratefully
acknowledges the valuable
contribution from Prof Neil Boudvile, A/
Prof Gopi Rangan, the PKD Foundation
of Australia and the Kidney Health
Australia National Consumer Council
in the review of this material.
This fact sheet is supported by
an unrestricted grant by Otsuka
Australia Pharmaceutical Pty Ltd.
Connect with us www.kidney.org.au Freecall 1800 454 363You can also read
