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Gitelman and Type 3 Bartter Syndromes – Patient Information
- How the illness affects people
Gitelman and Type 3 Bartter Syndromes are diseases of the kidney. The diagram below shows their most common symptoms. Some people will notice lots of these symptoms while others will notice very few. Although these conditions affect the working of the kidney, they do not cause structural damage. People with Gitelman and Bartter Syndromes are therefore unlikely to need dialysis or a kidney transplant .
This picture lists the kind of symptoms that can occur.
- What can be done about it?
Gitelman and Type 3 Bartter Syndromes cause salts to be lost from the body in the urine. Treatment aims to prevent the symptoms of these conditions to help patients to live a normal life. Dietary adjustments are needed to include foods that are high in salt, potassium and magnesium (see dietary needs).
Most people with Gitelman and Type 3 Bartter Syndromes will need to take either potassium (K) or magnesium (Mg) supplements, or both, every day, to help replace what is lost in the urine. Sometimes high doses are needed which can be difficult to digest and may cause unpleasant side effects like diarrhoea. The following types of supplements have been found to cause the fewest problems:
- Magnesium: Magnesium lactate (MagTab SR), Magnesium glycerophosphate and Magnesium aspartate.
Gitelman and Type 3 Bartter Syndromes are life long conditions. People with these conditions need to stay on treatment and have regular hospital appointments and blood tests. Without treatment, potassium and magnesium levels in the blood could fall very low, causing heart rhythm problems. The amount of supplements and medicines needed may change over time. It is therefore important to remain on the correct amount of treatment to balance the body’s salt levels and prevent complications.
- Other peoples’ experiences
The third Gitelman and Bartter Syndrome Patient Information Day was held on Saturday 3rd December 2016 at Resource for London. For further details please click here or visit the Gitelman Syndrome Online website.
The second Gitelman and Bartter Syndrome Patient Information Day was held on Saturday 13th June 2015 at the Resource for London. A report of the day can be found on the Gitelman Syndrome Online website.
A report of the first Patient Information Day from 2011 can be found here.
- Patient Support Group
Gitelman Syndrome Online is a new patient resource containing information and patient stories of those with Gitelman and Bartter Syndromes.
- How the disease works
Gitelman and Bartter Syndromes can affect men and women equally. Each condition is caused by changes in one gene that is important for moving salt around in the kidneys.
- In Gitelman Syndrome this gene is called SLC12A3
- In Type 3 Bartter Syndrome the gene is called CLCNKB
Everyone has 2 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 perfectly healthy because the normal copy can still do its job, but they can still pass the condition on to their child
- In patients with the condition, neither copy works normally. The gene can’t do its job properly and so the kidneys lose salt
- When both parents are carriers, each child could be healthy, a healthy carrier, or affected.
The diagram below explains how this works.
a = gene with mutation A = gene without mutation
People with Gitelman or Bartter Syndrome are likely to know they have it, but if they are just a carrier of either condition then they may not. The chances of someone’s partner being a carrier are less than 1 in 100, unless they are related by blood (i.e. cousins), in which case it is higher. Because these chances are so low, most people with the condition have healthy children who may be carriers of the gene.
Gitelman and Bartter Syndromes can be diagnosed by a DNA test. This is a simple blood test, which looks at the genes that cause the condition. Some people find this information useful when planning a family to see whether their partner either has the condition or is a carrier. Other family members related by blood (including brothers, sisters, parents, children, aunts, uncles and cousins) might also want their DNA examined. This can be arranged through their doctor, a renal clinic or a geneticist.
- What’s new? Opportunities for research and development
The Gitelman and Bartter Syndromes Rare Disease Group (RDG) is working with international partners with the aim of finding new and improved treatments, and to empower patients. A first step is to compare the symptoms and genetic markers of Gitelman and Barrter Syndromes. To do this the RDG is registering patients with these conditions in the National Renal Rare Disease Registry (RaDaR). The registry will be used to find suitable participants for future research trials into the effectiveness of new treatments.
If you are interested in finding out more about RaDaR or the activity of the RDG please visit the Tubulopathy RDG page which covers Bartter and Gitelman syndromes.
Written by the Tubulopathy (previously Hypokalaemic Alkaloses) Rare Disease Group