What is Gitelman syndrome?
Gitelman syndrome is a very rare type of inherited kidney condition that causes salt to be lost from the body in the urine. It is named after the doctor who first identified the condition in 1966, Dr Hiller Gitelman.
Gitelman syndrome is very similar to Bartter syndrome type 3.
Gitelman syndrome affects around 1 in 40,000 people in the UK. It is usually diagnosed in adults. Men and women are affected equally.
What are the signs and symptoms of Gitelman syndrome?
Some people with Gitelman or Bartter type 3 syndrome do not have any symptoms. For those who do, common symptoms include:
- extreme tiredness
- muscle cramps
- joint pain
- persistent thirst
- craving for salty food
- numbness and tingling in the hands and feet.
Gitelman syndrome tends to be milder than Bartter syndrome type 3 and develops at a later age.
What causes Gitelman syndrome?
Gitelman syndrome is caused by changes in a gene called SLC12A3 and Bartter syndrome type 3 is caused by changes in the gene CLCNKB.
These genes affect part of the kidney called the distal convoluted tubule, which is responsible for filtering the blood and reabsorbing nutrients such as salt and potassium. When either of these genes does not work properly, salt and potassium are lost in the urine instead of being reabsorbed into the blood.
How is Gitelman syndrome diagnosed?
Gitelman syndrome is usually diagnosed by a blood test that shows low levels of potassium, magnesium and calcium.
A urine test will show low levels of calcium for Gitelman syndrome but not for Bartter syndrome.
Genetic testing may also be possible, especially if there is a family history of Gitelman or Bartter syndrome or other kidney disease.
Does Gitelman syndrome affect other parts of the body?
Gitelman syndrome itself only affects the kidneys but symptoms can occur in other parts of the body.
Gitelman syndrome can alter the effects of anaesthetics. People with Gitelman syndrome should therefore tell their doctors and dentists about their diagnosis, even if the treatment they are having is not related (for example, a local anaesthetic to remove a tooth).
Does Gitelman syndrome run in families?
Gitelman syndrome is a genetic condition so it can be inherited from one generation to the next.
Everybody has two copies of the gene involved, one from each parent.
Healthy people have two normal copies.
Carriers have one copy that works normally and one that doesn’t. Carriers are usually healthy because the normal copy can still do its job. However, they can still pass Gitelman syndrome on to their child. The chance of someone in the general population being a carrier is less than 1 in 100. In family members of people with Gitelman syndrome, the chance of being a carrier is higher.
In people with Gitelman syndrome, neither copy of the gene works properly, causing the kidneys to leak salt into the urine.
When both parents are carriers, a child could be healthy with two normal genes; a healthy carrier like their parents, with one healthy and one faulty gene; or affected with both genes being faulty. This pattern is called autosomal recessive inheritance.
How is Gitelman syndrome treated?
Treatment focuses on ‘topping up’ the levels of salts with dietary changes and supplements. It is rarely possible to normalise the abnormal salt levels but increasing them helps to improve symptoms.
People with Gitelman syndrome are likely to be advised to follow a special diet that is high in salt, potassium and magnesium. This should only be undertaken with advice and monitoring by a specialist kidney dietitian.
High doses of potassium and/or magnesium supplements may be needed, which can be difficult to digest and can cause side effects such as abdominal pain and diarrhoea. Liquid supplements tend to cause fewer side effects than tablets.
During periods when the body is under stress, such as during illness or after surgical procedures, salt levels can change very quickly. This may result in the need for intravenous (IV) therapy in hospital to quickly top up salt levels.
Non-steroidal medications such as indomethacin may also be prescribed, especially for Bartter syndrome, to help the kidneys hold on to the potassium and magnesium that the body needs.
Potassium sparing diuretics may also be prescribed. These medications increase the amount of fluid that leaves the body in the urine, while retaining the potassium that would normally also be lost.
Gitelman syndrome requires lifelong monitoring and treatment. The amounts of supplements and medications prescribed are likely to change over time. Without treatment, potassium and magnesium levels in the blood could become very low, which can cause heart rhythm problems.
Although Gitelman syndrome affects how well the kidneys work, it doesn’t affect their actual structure. Dialysis or a kidney transplant are therefore rarely needed.
Where can I get more information or support about Gitelman syndrome?
For more information on Gitelman Syndrome, including its genetics, diagnosis, symptoms and treatment, visit the Gitelman Syndrome Online Resource.
Publication date: 11/2023
Review date: 11/2026
This resource was produced according to PIF TICK standards. PIF TICK is the UK’s only assessed quality mark for print and online health and care information. Kidney Care UK is PIF TICK accredited.