Genetic and rare kidney disease

Genetic kidney diseases

Genetic disorders are inherited conditions passed down from your parents’ altered genes. Even if your parents do not have a genetic kidney disease, they may be carriers of genes that can put you at risk.

Genes are the instructions for how your body builds specific proteins and are transferred from your parents on chromosomes. If you have two X chromosomes you are born female, whereas an X and Y chromosome presents as a male sex.

Some common genetic kidney diseases are below:

Alport syndrome is a genetic condition affecting the kidneys, eyes, and ears. It is passed down in several different ways within families. It affects collagen; a protein found in structures throughout your body.

Some people do not know they have Alport syndrome until they have a Kidney Health Check or have symptoms. Signs include:

blood in your urine (haematuria)

protein in your urine

eyesight problems

deafness or hard of hearing

While there is no known cure for Alport syndrome, there are treatments that can help. Check out our Alport syndrome factsheet or visit https://www.alportaustralia.com/ to learn more about living with this disease.

Polycystic kidney disease is a type of chronic kidney disease where many cysts (fluid-filled sacs) grow in the kidney. It is one of the most common inherited kidney diseases.

Autosomal Dominant PKD is often called the ‘adult’ PKD because symptoms do not generally appear until adulthood. Symptoms of PKD can include:

changes to your urine (wee) – you may notice blood in your urine (haematuria) or increased urinary tract infections

kidney stones

high blood pressure

reduced kidney function – about half of the people with Autosomal Dominant PKD develop kidney failure by 60 years old.

Autosomal Recessive PKD (ARPKD) is a rare genetic condition that is often discovered in childhood or even at birth. It can affect how well the kidneys work and may affect the liver. While most people are diagnosed early in life, some are not diagnosed until adulthood.

Check out our factsheet on polycystic kidney disease or visit https://pkdaustralia.org/ to learn more about living with PKD.

Testing for Genetic Disease

When your doctor suspects a genetic cause of your kidney disease or no cause can be found, sometimes they will offer you genetic testing. This involves a blood or saliva (spit) test to look for changes in your genes.

If you or a family member has been diagnosed with a genetic kidney disease, talk to your doctor if you need to be tested. Detecting genetic disease early can help you or a family member start treatment sooner – and this can help protect the kidneys.

If you are starting to plan a family or are thinking about having children in the future, consider talking to a genetic counsellor if you are concerned about passing on a genetic disease to your child. Your GP can help connect you to a specialist for genetic testing.

Nephritis

Inside each kidney there are about one million tiny filtering units called nephrons. In each nephron, there is a tiny set of filters called glomeruli, which remove toxins and extra fluid from your blood.

Nephritis is a group of diseases that cause inflammation (swelling) of the nephrons. This swelling can damage the glomeruli and reduce how well the kidneys work.

Other rare kidney diseases

IgA nephropathy (IgAN) is an autoimmune disease. This means your immune system mistakenly attacks healthy tissue.

In IgAN, the IgA antibody builds up in the kidney filters. This makes it harder for your kidney to filter your blood, causing protein and blood to leak into your urine.

Your doctor may discover damage to your kidneys during a ‘Kidney Health Check.’ To confirm a diagnosis of IgAN, you will need to have a kidney biopsy. Some people have no symptoms, while some around 2 in 10 people will develop very high blood pressure and kidney disease.

While there is no cure for IgAN, there are medicines that can help. Your doctor will prescribe medicines to treat high blood pressure and protect your kidney function. New medicines are being tested to slow down kidney damage in IgAN. Talk to your kidney doctor about the best treatments for you and learn more by visiting our IgA nephropathy factsheet.

C3G is an autoimmune disease that is caused when C3 proteins clog the kidney filters. Both children and adults can get this disease.

Some signs of C3G include:

blood in the urine (haematuria)

protein in the urine (proteinuria)

high blood pressure

Like IgA nephropathy, your doctor may discover damage to your kidneys with a ‘Kidney Health Check,’ and results from a kidney biopsy help confirm C3G.

While there is currently no cure for C3G, the doctor may prescribe blood pressure medicines and cholesterol-lowering medicines to help protect the kidneys. Scientists are studying new medicines to help with this condition.

FSGS is a kidney condition that affects the glomeruli, which are the tiny filters inside the nephrons in the kidney. In FSGS, scarring (medically called ‘sclerosis’) develops on small sections of each glomerulus, and this affects the ability of the kidneys to work as they should. FSGS can affect both adults and children. It is slightly more common in men than women.

Primary FSGS is when the disease happens on its own without an obvious cause, secondary FSGS is when the disease is caused by another disease, most commonly diabetes, an infection or a drug. Familial FSGS is a rare form caused by genetics.

How is it diagnosed?

FSGS may present with ‘nephrotic syndrome’. This is where the kidney leaks a large amount of protein in your urine (wee). Your body holds on to fluid leading to symptoms of:

swelling or puffiness in your legs, ankles or around your eyes
weight gain
shortness of breath

A urine test will confirm the presence of excess leakage of protein and a blood test will confirm low protein levels in the blood. Other changes may include high cholesterol levels in the blood.

What is the treatment?

The type of treatment you undergo will depend on your individual circumstances. Some common treatment options for FSGS include:

Medicines to calm your immune system such as corticosteroids or immunosuppressants

Plasmapheresis – a type of dialysis

Blood pressure medications

Medicines to help get rid of extra fluid (diuretics)

Making changes to your diet.

Lupus is an autoimmune disease where your body’s own defence cells (antibodies) mistakenly attack the healthy tissue in your body. Lupus commonly affects the skin, joints, lungs, kidneys, and brain.

Lupus nephritis occurs when your immune system attacks the filters of your kidneys, causing swelling and scarring. Damage can lead to problems like high blood pressure and kidney failure.

Read the lupus nephritis factsheet for more information.

Support for Rare Kidney Diseases

Check out these other organisations to learn more about other rare kidney diseases.

Branchio oto renal syndrome is an ultra-rare genetic disease that can affect the ears, kidneys, and neck structures. Learn more at Branchio Oto Renal (BOR) Syndrome | BORS Education Centre

KidGen is an Australian organisation connecting those with rare genetic kidney disease to research studies. Visit Patients — KidGen to learn more.

Rare Voices Australia is the national peak body for Australians living with a rare disease. They advocate for the best outcomes for Australians living with a rare disease. Visit their website.

Vasculitis affects the blood vessels of the body and may lead to damage of the kidneys. Find out more about this condition at the Australia and New Zealand Vasculitis Society.

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Special Thanks! This educational website is supported by a sponsorship provided by Novartis.

Last updated: April 2026