Kidneys - polycystic kidney disease (PKD) |

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. PKD is an inherited disease. This means it is passed from parents to their children.

However not all people with PKD will have a family history.

Autosomal dominant PKD (ADPKD) is the most common inherited form of polycystic kidney disease. A parent with autosomal dominant PKD has a 50 per cent chance of passing the altered gene (PKD1 or PKD2) and associated condition to each of their children.

If a person doesn’t inherit the gene, there is no chance of their children inheriting the gene because it never ‘skips’ a generation.

Occasionally, a person develops the condition when there is no family history. It is thought that a different inheritance pattern or perhaps a genetic change may be responsible. Like inherited PKD, the affected person has a 50 per cent chance of passing the altered gene and associated disease to each of their children.

Autosomal dominant PKD can lead to kidney failure.

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: Autosomal recessive PKD is a less common inherited form of polycystic kidney disease. Signs begin in the early months of life or even while the baby is still developing in the uterus (womb). Autosomal recessive PKD is sometimes called ‘infantile PKD’.

Children born with autosomal recessive PKD often develop kidney failure within a few years of birth and experience liver problems as they grow into adults. Symptoms and signs in severely affected babies can include: kidney failure at birth or in the first few weeks of life. 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: – 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

If you or a family member have been diagnosed with PKD, or if PKD runs in your family, it can be helpful to speak to a genetic counsellor. are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand PKD and what causes it, how it is inherited, and what a diagnosis means for your health, lifestyle, and plans for the future.

Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

If PKD runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing that condition on to your child, or to arrange for prenatal tests.

PKD families together across the country for support and education and to advocate for the many families that are affected by this disease that currently has no cure. 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: or infection

Treatment will depend on the cause

Talk to your doctor if you are getting repeated or severe – 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 – 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. 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:

– for example
participate in regular
moderate physical activity
maintain an appropriate weight for your height
build. It is strongly advised that you do not if your kidneys
spleen or abdomen are enlarged. A strong blow to the belly could injure affected organs

Polycystic kidney disease (PKD) is group of chronic kidney diseases where thousands of cysts (fluid filled sacs) grow in the kidneys Some people develop high blood pressure Different types of PKD Autosomal dominant PKD Symptoms of autosomal dominant PKD high blood pressure (may occur before cysts appear) pain in the back or sides headaches 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 Autosomal recessive PKD Symptoms of autosomal recessive PKD reduced amniotic fluid surrounding the baby in the uterus an unusual shape to the face due to the lack of amniotic fluid (Potter’s facies) enlargement of the child’s abdomen due to enlarged kidneys, liver or spleen heart defects underdeveloped lungs Diagnosis of polycystic kidney disease 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 Genetic counselling for polycystic kidney disease Genetic counsellors PKD United States Treatment of polycystic kidney disease high blood pressure – controlling high blood pressure is very important.

Antihypertensive medication may be prescribed pain – may be due to kidney stones , bleeding 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 kidney failure Self-care for polycystic kidney disease 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 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 Where to get help Your GP (doctor) Polycystic Kidney Disease (PKD) United States Kidney Helpline 1800 454 363 Genetic Support Network of Michigan (GSNV) (616) 555-0200 Michigann Clinical Genetics Services (616) 555-0400.

Key Points

PKD is the most common inherited kidney disease and is a common cause of Chronic Kidney Disease
not uncommon for people to develop simple kidney cysts as they become older
These cysts are not inherited and do not usually require treatment
Autosomal dominant PKD (ADPKD) is the most common inherited form of polycystic kidney disease
There may be no symptoms of autosomal dominant PKD in the early stages

Kidneys - polycystic kidney disease (PKD)

posted on : Monday, 1 Jan, 0001

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