Around 70 people per 100,000 have a rare kidney condition.
If you or your child have been diagnosed with a rare kidney disease, you may feel overwhelmed and worried about where to turn. The information on this page provides a brief summary of some rare kidney diseases, and also signposts to specific patient support groups for further advice.
You may also like to consider joining the National Registry of Rare Kidney Diseases (RaDaR) which is used to find suitable participants for research trials into new treatments, potential genetic testing and quality of life research. If you are interested in finding out more about RaDaR please visit the website or talk to your kidney team.
If you are living with a rare kidney condition, find out more about how Kidney Care UK can support you.
Rare kidney conditions
Atypical Haemolytic Uraemic Syndrome (aHUS)
Alport Syndrome
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Bartters Syndrome
C3 Glomerulopathy (C3G)
Cystinosis
Cystinuria
Dense Deposit Disease (DDD)
Gitelman Syndrome
IgA Nephropathy (IgAN)
Lowe Syndrome
Membranous Nephropathy (MN)
Membranoproliferative glomerulonephritis (MPGN)
Nephronophthisis (NPHP)
Primary Hyperoxaluria (PH, also known as Oxalosis)
Steroid Resistant Nephrotic Syndrome (SRNS)
Steroid Sensitive Nephrotic Syndrome (SSNS)
Tuberous Sclerosis (TSC)
Vasculitis
Atypical Haemolytic Uraemic Syndrome (aHUS)
aHUS occurs due to an abnormality in the immune system that leads to tiny clots forming in blood vessels. There are about 20 new cases a year in the UK. It is usually diagnosed by blood tests or a kidney biopsy.
Symptoms include tiredness, sometimes breathlessness and generally feeling extremely unwell. aHUS can develop at any age and is often triggered by illness, medications or pregnancy.
Treatment may include an infusion of a medication called eculizumab. Without treatment aHUS can lead to kidney failure. Dialysis and/or transplant may be needed.
The National Renal Complement Therapeutics Centre offers more information.
We spoke with the charity Alport UK about living with Alport syndrome. Read the interview and find out more information about Alport syndrome and Alport UK.
Alport Syndrome
Alport's is a genetic condition that occurs due to an abnormality in part of the kidneys’ filtering system. It affects around 1 in 5,000 people and is usually diagnosed by a kidney biopsy and genetic testing. It mostly affects men.
Diagnosis is made by detecting non-visible blood in the urine on dipstick testing and white flecks in the coloured part of the eye that do not affect the vision. Mild to moderate hearing loss is also common, due to damage to the fibres of the inner ear.
Blood pressure medication can help maintain kidney function, although dialysis and/or transplant may eventually be needed.
For more information visit Alport UK.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
ADPKD is a genetic condition that causes cysts in the kidneys. As these cysts grow, they can damage and enlarge the kidneys, making it difficult for them to filter the blood properly.
ADPKD affects around 1 in 2,000 people and is equally common in men and women. It is usually diagnosed in adulthood by a scan (ultrasound, CT or MRI).
Common symptoms include high blood pressure, frequent urinary tract infections, blood in the urine and abdominal discomfort or bloating.
Blood pressure medication can help maintain kidney function, although dialysis and/or transplant may eventually be needed. A medication called Tolvaptan may also be prescribed to slow the growth of the cysts.
For more information about ADPKD visit The PKD Charity.
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
ARPKD is a severe genetic condition that causes cysts in the kidneys and liver. As these cysts grow, they can damage and enlarge the kidneys, making it difficult for them to filter the blood properly.
ARPKD affects around 1 in 20,000 people and is usually diagnosed in babies and young children. It is equally common in boys and girls. It is usually diagnosed by an ultrasound scan during the mother’s pregnancy.
Common symptoms include large kidneys which result in a bloated-looking stomach, high blood pressure and reduced growth. It can also cause breathing difficulties as the baby’s lungs may not have developed properly in the womb. Affected children will require careful monitoring from specialist treatment teams.
By the age of ten, most children with ARPKD will have developed kidney failure and need dialysis or a kidney transplant. A liver transplant may also be needed. ARPKD does not reoccur after transplant and children can usually live a normal, active life.
The PKD Charity offers more information about ARPKD.
Bartters syndrome
Bartters are very rare types of inherited kidney conditions that cause excess salts and water to be lost from the body in the urine. Five different types have been identified so far, known as Bartters Types 1-5, although Type 3 is also called Gitelman Syndrome.
Bartters affects around 1 in 1,000,000 people and is usually diagnosed in childhood by blood tests. Boys and girls are affected equally.
Symptoms include repeated vomiting, muscle weakness, persistent thirst and a general failure to thrive in children. Type 4 Bartters Syndrome may also result in mild hearing loss.
Treatment focuses on ‘topping up’ the levels of potassium, magnesium and salt by dietary changes and supplements. Lifelong monitoring is required although dialysis or transplant are rarely needed.
For more information visit Gitelman Syndrome Online Resource.
C3 Glomerulopathy (C3G)
C3G occurs when part of the immune system called complement C3 is deposited in the kidneys. This affects their ability to filter the blood and can eventually lead to a reduction of kidney function.
It affects around 1 in 500,000 people. Men and women are affected equally. It is usually diagnosed by a kidney biopsy.
C3G is similar to Dense Deposit Disease (DDD) and Membranoproliferative Glomerulonephritis (MPGN). The precise diagnosis depends on the appearance of the kidneys. In C3G, patches of complement deposit can be seen on the kidneys’ cells when examined under a microscope after a biopsy.
Symptoms include blood and protein in the urine, swelling around the eyes and ankles and high blood pressure.
Dietary changes may help to reduce swelling. Immunosuppressants such as steroids may also be prescribed to help the immune system. Blood pressure medication can help maintain kidney function, although dialysis and/or transplant may eventually be needed.
For more information visit The MPGN/DDD Support Group.
Cystinosis
Cystinosis is a rare inherited condition caused by a build-up in the body of an amino acid called cystine. This causes the kidneys to leak essential salt, water and potassium.
Cystinosis affects around 1 in 200,000 people. It is usually diagnosed in early childhood by a blood test. It is equally common in men and women.
Symptoms include difficulty feeding, increased thirst, slow growth and muscle weakness. Affected children also develop rickets (softening of the bones) and are very sensitive to bright light.
Treatment is with a medication called Cysteamine which controls the build-up of cystine. Cysteamine eye drops can also be used to help with light sensitivity. Nutritional supplements and/or growth hormones are often prescribed for young children. Taking medication exactly as prescribed drastically improves outcomes and delays the need for dialysis or transplant.
For more information visit Cystinosis Foundation UK.
Cystinuria
Cystinuria is an inherited condition that causes an amino acid called cystine to build up in the urine and form crystals which can eventually turn into kidney stones.
Symptoms include lower back or groin pain and urinary tract infections. The amount and size of kidney stones vary. Some people have only a few stones in a lifetime and few symptoms, while others get several new stones a year.
Cystinuria affects around 1 in 10,000 people. Men and women are equally likely to be affected although men tend to have a more severe form of the condition. It is usually diagnosed in early adulthood by examining the stone itself to see if it is made up of cystine.
Treatment aims to keep the urine diluted to prevent stones from forming. This can be helped by drinking lots of water (4-5 litres a day) and reducing salt intake. Dietary changes and/or medication may also be recommended. Small kidney stones can be passed in the urine although large ones may require surgery.
For more information go to the Cystinuria UK website.
Dense Deposit Disease (DDD)
DDD occurs when part of the immune system called complement is deposited in the kidneys. This affects their ability to filter the blood and can eventually lead to a reduction of kidney function.
It affects around 1 in 500,000 people. Men and women are affected equally. It is usually diagnosed by a kidney biopsy.
DDD is similar to C3 Glomerulopathy (C3G) and Membranoproliferative Glomerulonephritis (MPGN). The precise diagnosis depends on the appearance of the kidneys. In DDD, long, dense strips of complement deposit can be seen on the kidney cells when examined under a microscope after a biopsy.
Symptoms include blood and protein in the urine, swelling around the eyes and ankles, high blood pressure and a loss of fat in the face and upper part of the body, which can result in a gradual change of appearance.
Dietary changes may help to reduce swelling. Immunosuppressants such as steroids may also be prescribed. Blood pressure medication can help maintain kidney function, although dialysis and/or transplant may eventually be needed.
For more information visit The MPGN/DDD Support Group.
Gitelman syndrome
Gitelmans (also known as Bartters Type 3) is a rare inherited condition that causes salt to be lost from the kidneys in the urine. Without treatment, levels of potassium and magnesium in the blood could fall very low, causing heart rhythm problems.
It affects around 1 in 40,000 people and is usually diagnosed by blood tests. Men and women are affected equally.
Symptoms include extreme tiredness, muscle cramps, cravings for salty food and excessive thirst.
Treatment focuses on ‘topping up’ the levels of potassium, magnesium and salt by dietary changes and supplements. Lifelong monitoring is required although dialysis or transplant are rarely needed.
For more information visit Gitelman Syndrome Online Resource
IgA Nephropathy (IgAN)
IgAN occurs when a protein called Immunoglobulin A (IgA) gets ‘trapped’ in the filters of the kidneys, damaging them and reducing their ability to clear waste from the body.
It affects around 1 in 50,000 people and is usually diagnosed in late teens-to early adulthood by a kidney biopsy. Men are more likely to be affected than women.
Some people with IgAN do not have any symptoms. For those that do, the most common are blood (visible and non-visible on dipstick testing) with or without protein in the urine and swelling round the eyes, legs and feet. IgAN can occur in cycles, with flare ups and remissions.
Blood pressure medication and/or immunosuppressants such as steroids may be prescribed to help the immune system. Dietary changes may also help to reduce swelling. Kidney function deteriorates at different rates in different people, but only 1 in 4 people with IgAN require dialysis and/or transplant.
For more information visit The Leicester IgAN Research Group.
Lowe Syndrome
Lowe Syndrome is a very rare genetic condition that causes severe physical and cognitive disabilities due to the lack of an essential enzyme that prevents the kidneys from reabsorbing nutrients from the bloodstream.
It affects around 1 in 500,000 people and is usually diagnosed shortly after birth. It almost always only affects boys.
All babies with Lowe Syndrome have cataracts over their eyes. Other symptoms include difficulty feeding, persistent thirst, softening of the bones (rickets) and developmental delay. Seizures may develop in early adulthood, along with joint problems, skin cysts and deterioration of kidney function.
Treatment focuses on symptom management. Cataract surgery can improve eyesight and dietary supplements can boost growth and development. Anticonvulsant medications may be prescribed to reduce seizures.
The severity of symptoms can vary. Some children can attend mainstream school with minimal assistance and lead independent lives as adults. Others will require full-time residential care throughout their lives.
For more information visit The Lowe Syndrome Trust.
Membranous Nephropathy (MN)
MN occurs when the immune system causes the tiny filters in the kidney to malfunction and allow a protein called albumin to leak into the urine.
It affects around 1 in 100,000 people and is twice as common in men than women. It is usually diagnosed between the ages of 40 and 70 by a kidney biopsy. MN can be triggered by other conditions such as hepatitis or rheumatoid arthritis, or occur by itself.
Symptoms include foamy, frothy urine (like the head on a pint of beer), high blood pressure, puffiness around the eyes and swollen ankles.
Around 1 in 3 people with MN recover without the need for any treatment. If treatment is needed, blood pressure medication can help to reduce the loss of protein in the urine. Dialysis and/or kidney transplant may be necessary if kidney damage progresses.
For more information visit The Edinburgh Renal Unit - Membranous nephropathy.
Membranoproliferative glomerulonephritis (MPGN)
MPGN occurs when antibodies and part of the immune system called complement are deposited in the kidneys. This affects their ability to filter the blood and can eventually lead to a reduction of kidney function.
It affects around 1 in 100,000 people. Men and women are affected equally. It is usually diagnosed by a kidney biopsy.
MPGN is similar to C3 Glomerulopathy (C3G) and Dense Deposit Disease (DDD). The precise diagnosis depends on the appearance of the kidneys. In MPGN, both antibodies and complement can be seen in the kidneys’ cells when examined under a microscope after a biopsy.
Common symptoms include blood and protein in the urine, swelling around the eyes and ankles, high blood pressure, hives and anaemia.
Dietary changes may help to reduce swelling. Immunosuppressants such as steroids may also be prescribed. Blood pressure medication can help maintain kidney function, although dialysis and/or transplant may eventually be needed.
For more information visit The MPGN/DDD Support Group.
Nephronophthisis (NPHP)
NPHP is an inherited condition that affects the cilia – tiny hair-like structures that help with transmitting messages to the body’s cells. Damage to the cilia in the kidney can lead to cysts or scarring in the kidney, which affects how well it can function.
NPHP is thought to affect around 1 in 75,000 people although exact figures are currently unknown. It is usually diagnosed in babies and young children by an ultrasound scan. Boys and girls are affected equally.
Symptoms include excessive thirst, repeated urination (which may present as bed wetting in young children), anaemia, high blood pressure and reduced growth.
Regular blood and urine tests are needed to monitor kidney function. Dietary changes and nutritional supplements may be recommended to help with development. Dialysis and/or transplant are often needed by early puberty.
For more information visit The Ciliopathy Alliance.
Primary Hyperoxaluria (PH, also known as Oxalosis)
PH is a genetic condition that results in too much of a chemical called oxalate building up in the urine which can lead to kidney stones.
It affects around 1 in 1,000,000 people. Age of diagnosis varies. Men and women are affected equally. Diagnosis is often delayed as the condition is so rare, although genetic testing is being developed.
Symptoms include blood in the urine, reduced growth, anaemia and severe pain in the stomach or back.
Treatment aims to keep the urine diluted to prevent stones from forming. This can be helped by drinking lots of water (at least 3 litres a day). Vitamin B6 may also be prescribed to reduce oxalate build-up. Small kidney stones can be passed in the urine although large ones may require surgery.
PH can eventually lead to kidney failure and the need for dialysis and/or transplant. As PH can reoccur in a transplanted kidney, a combined liver and kidney transplant may be recommended in order to correct the way the body handles oxalate.
For more information visit The Oxalosis & Hyperoxaluria Foundation.
Steroid Resistant Nephrotic Syndrome (SRNS)
SRNS occurs when the tiny filters in the kidney are damaged, causing them to leak protein and retain excess water. Over time this can cause kidney damage.
Nephrotic Syndrome affects around 1 in 30,000 people. It is usually diagnosed in childhood by a blood or urine test.
Symptoms include protein in the urine, swelling around the eyes and ankles, increased risk of infection, anaemia and low blood pressure.
The first course of treatment is usually steroids which are effective in the majority of people. If they do not work, the SRNS diagnosis is applied. Treatment is then likely to be by water tablets to reduce the swelling, and possible dietary changes. Some people recover or go into remission whereas others will progress to kidney failure and require dialysis and/or a transplant.
For more information visit Nephrotic Syndrome Trust.
Steroid Sensitive Nephrotic Syndrome (SSNS)
SSNS occurs when the tiny filters in the kidney are damaged, causing them to leak protein and retain excess water. Over time this can cause kidney damage.
Nephrotic Syndrome affects around 1 in 30,000 people. It is usually diagnosed in childhood by a blood or urine test.
Symptoms include protein in the urine, swelling around the eyes and ankles, increased risk of infection, anaemia and low blood pressure.
The first course of treatment is usually steroids which are effective in the majority of people and confirm the diagnosis as SSNS. A single course of steroids may be sufficient and the condition may never reoccur. Other people will have multiple relapses, although severe kidney damage is rare.
For more information visit Nephrotic Syndrome Trust.
Tuberous Sclerosis (TSC)
TSC is a genetic condition that causes non-cancerous growths in various parts of the body, including the brain and kidneys.
It affects between 4,000-11,000 people in the UK. It is present from birth although symptoms may not develop until early adulthood. Men and women are affected equally. Diagnosis is by physical examination and imaging scans, including ultrasounds of the kidneys and MRI scans of the brain.
Symptoms include epilepsy, autism, learning and/or behavioural difficulties and abnormal growths in the lungs and heart. Some people with TSC have very mild symptoms whereas others are severely affected.
The growths caused by TSC are not cancer and are not infectious. Some growths shrink and disappear by themselves whereas others may need to be surgically removed. Blood pressure medication may be prescribed as well as medication to treat epilepsy. Children with TSC may require additional assistance at school.
For more information visit The Tuberous Sclerosis Association.
Vasculitis
Vasculitis is an immune system disorder that causes an inflammation of the blood vessels. It can affect any part of the body, including the kidneys. There are different types of vasculitis, depending on the size of the blood vessels they affect (small, medium or large).
Vasculitis affects around 2,000 people a year. It can be caused by infections, reactions to certain medications or as a result of other conditions such as rheumatoid arthritis. However, for many people the cause is unknown.
Symptoms include muscle weakness, tiredness, joint pains and rashes.
Some types of Vasculitis do not need any treatment as the symptoms resolve overtime by themselves. If treatment is needed, immunosuppressants and/or steroid medication may be prescribed.
For more information visit Vasculitis UK.
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