What are tubulopathies?
Tubulopathies are a group of rare kidney conditions that affect the tubes (tubules) in the kidneys’ filters (the nephrons). Tubulopathies occur when there is a problem with the tubules so they don’t work as well as they should do.
There are lots of different types of tubulopathies and different parts of the tubules are affected by each condition. Specialist care is needed to ensure individualised treatment that it is tailored to the particular condition. This page gives a general overview of tubulopathies and signposts to sources of further information.
The exact number of people affected by tubulopathies is unknown but is believed to be around 4 - 8 in 100,000 people in the UK. Some types of tubulopathies are much rarer than others. Bartters and Gitelman syndromes affect around 1 in 40,000 people whereas EAST syndrome occurs in only 1 in 1,000,000 people.
Tubulopathies include the following conditions:
Arginine vasopressin (AVP) resistance (also known as Nephrogenic diabetes insipidus)
Autoimmune distal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Autosomal recessive distal renal tubular acidosis
Autosomal recessive proximal renal tubular acidosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Drug induced Fanconi syndrome
Drug induced hypomagnesemia
Drug induced Nephrogenic Diabetes Insipidus
Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis CLDN16/19
Familial primary hypomagnesemia with hypocalcuria FXYD2
Familial primary hypomagnesemia with normocalcuria EGF
Familial renal glucosuria SLC5A2
Fanconi Renotubular syndrome 1 (FRTS1)
Fanconi Renotubular syndrome 2 (FRTS2)
Fanconi Renotubular syndrome 3 (FRTS3)
Generalized pseudohypoaldosteronism type 1
Heavy metal induced Fanconi syndrome
Hereditary renal hypouricemia
Hereditary hypophosphatemic rickets with hypercalciuria
Hyperuricaemic Nephropathy (Primary/Familial Hyperuricaemic nephropathy)
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Medullary cystic kidney disease
Nephrogenic syndrome of inappropriate antidiuresis
Oncogenic osteomalacia
Osteopetrosis with renal tubular acidosis
Primary hypomagnesemia with secondary hypocalcemia
Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
Renal pseudohypoaldosteronism type 1
What are the signs and symptoms of tubulopathies?
Tubulopathies can affect people in different ways. Some people do not have any symptoms and their condition is only diagnosed after a routine urine or blood test.
For those who do have symptoms, these might include:
- Feeling very tired or weak
- Slow growth in children (also known as failure to thrive)
- Excess thirst
- Excess urination
- High temperature
- Feeling or being sick
- Loss of appetite
- Painful bones
- Hearing problems
It is important to seek urgent medical advice if you notice any of these symptoms in a baby or young child or if your child needs to wee more than 10 times a day.
Dehydration is common with tubulopathies, especially in children. This can cause constipation, muscle cramps and a craving for salty foods.
What causes tubulopathies?
Tubulopathies can be inherited (passed on from the parents to a child) or acquired (develop in later life).
Most tubulopathy cases in children are inherited and are caused by a genetic mutation or ‘spelling mistake’ in the genes that the body uses to make the tubules. Over 50 different genes have been linked with the development of tubulopathies so far.
Tubulopathies can also be acquired (develop) due to an environmental cause or as a reaction to medications, including lithium (a psychiatric medication), chemotherapy, and some types of antibiotics. This is more common in adults.
Some cases of renal tubular acidosis are caused by other conditions such as rheumatic disease.
In each case, the tubulopathies affect the kidneys’ tubules and cause them not to work as well as they should do.
The tubules help to balance the amounts of water, salts and minerals (electrolytes) in the body. They control how much of these substances stay in your blood to keep you healthy and how much is lost in your urine (wee).
Electrolytes help to keep your muscles and heart working properly, keep your bones strong and help with your brain function.
When the tubules don’t work as they should do, the balance of water and electrolytes in the body is affected. You may lose too much water and electrocytes in your urine or keep more than you need. Both types of imbalances can affect your blood pressure and general health.
How are tubulopathies diagnosed?
Tubulopathies are usually diagnosed by blood and urine tests. Your doctor will look at the water and electrolyte imbalances in your blood and urine to find out which type of tubulopathy you have. This will allow your doctor to decide on the right treatment for you.
Your height, weight and blood pressure will also be measured.
You will be asked about any medication that you are taking to see if this may have caused your condition.
In some cases, a scan of your kidneys may be recommended to check for any damage or evidence of kidney stones.
You may also have an X-ray to check how healthy your bones are.
Hearing and eye tests may also be recomended.
Do tubulopathies affect other parts of the body?
Most types of tubulopathies only affect the kidneys but symptoms can include general reduced growth.
Some tubulopathies can alter the effects of anaesthetics. You should therefore tell your doctors and dentists about your diagnosis, even if the treatment you are having is not related to your condition (for example, a local anaesthetic to remove a tooth).
Renal tubular acidosis can cause rickets – a softening of the bones. It can also cause the development of kidney stones.
Do tubulopathies run in families?
Most tubulopathy cases in children are inherited so they can run in families. Genetic testing of family members may be offered if your tubulopathy is caused by a genetic mutation.
How are tubulopathies treated?
Tubulopathies need specialist treatment by a nephrologist, a specialist kidney doctor, although most people will enjoy good health most of the time.
You may be given a ‘sick day plan’ by your doctor, which explains what to do and who to contact if you are unwell. This is because any vomiting or diarrhoea can put extra pressure on your kidneys which may require urgent treatment.
Dietary changes may be needed. Your healthcare team will give you more information on this if it applies to you.
Lifestyle changes may also be recommended, including doing regular exercise and stopping smoking.
You may be prescribed medications and supplements called alkali agents to help balance the levels of water and electrocytes in your body.
The type and amount of medications needed may change over time, especially for children. It is important to follow your healthcare team’s advice on medications.
Some tubulopathies can affect your hearing so hearing aids may be recommended.
If a child with tubulopathy becomes very dehydrated, they may need to be admitted to hospital so that their healthcare team can closely monitor how much they drink and how much urine they produce.
Long-term outcome
Tubulopathies require lifelong monitoring and treatment, but kidney failure is unlikely to occur. Most people with tubulopathies can therefore life a full and active life and dialysis or a kidney transplant are very rarely needed for many tubulopathies.
Certain tubulopathies can ultimately lead to kidney failure and the need for a kidney transplant. Outcomes after kidney transplantation are good.
You will have regular check-ups with your kidney team to monitor your health.
Where can I get more information or support about tubulopathies?
Detailed information on Bartters Syndrome, EAST syndrome, Gitelman syndrome and Liddle syndrome can be found elsewhere in our Rare Hub.
For more information on Bartter and Gitelman Syndromes, including their genetics, diagnosis, symptoms and treatment, visit the Gitelman Syndrome Online Resource.
Publication date: 11/2025
Review date: 11/2028