Because this disease causes an excessive loss of salt (sodium chloride) in the urine, patients often have an appropriate and strong appetite for salt. Salt reabsorption is really important to maintain a normal blood pressure, so symptoms of a low blood pressure are common, these can include fatigue, dizziness (especially on standing up), weakness, difficulty in concentrating, depression, thirst and feeling cold. This salt loss may also lead to susceptibility to some infections.

To compensate for the low blood pressure, the body produces more hormones to increase salt absorption and blood pressure. This also causes the blood potassium levels to drop and for the blood alkali level to rise. Very low blood potassium levels (usually when there is another problem, like diarrhoea) can cause heart rhythm problems, which can be dangerous.

The disease causes the loss of calcium in the urine, which can lead to kidney stones or deposition of calcium in the meat of the kidney (this is called nephrocalcinosis). This urinary calcium loss can be severe enough to cause abnormal thinning of the bones, which can weaken them.

A proportion of patients with all types of Bartter get chronic kidney disease, and some require dialysis or kidney transplantation. The reason that some people get this and others don’t isn’t clear at the moment.

Some patients with Type 3 Bartter syndrome, for reasons which are not entirely clear, can have a picture that is much more like Gitelman syndrome.

All types of Bartter syndrome are Recessive Genetic diseases. This means that (generally) both parents must carry the gene to have an affected child. Given the rarity of these mutations requiring two occurrences, the likelihood of children inheriting Gitelman syndrome from an affected parent is extremely low.

We routinely use genetic testing to confirm the diagnosis. Sometimes we also use a special test called a furosemide test to look at NCC function at the London Tubular Centre.

There is currently no curative treatment for any type of Bartter syndrome. As the underlying problem is salt loss by the kidneys and our philosophy at the LTC is to replace this salt loss by salt replacement in the diet as much as possible. We also use the best oral potassium (Slow-K) and magnesium (MagTab S/R) supplements that are preferred by most patients. We generally avoid potassium sparing diuretics, which make blood tests better, but which tend to make symptoms worse. We prefer to treat patients symptoms rater than blood tests.

All types of Bartter syndrome is a genetic and therefore lifelong condition. Patients may be protected from high blood pressure, and life expectancy and quality of life are usually normal, a significant proportion of patients get chronic kidney disease, which can progress to kidney failure.