How is it diagnosed?

Being diagnosed with Gitelman Syndrome can often be a very long process, with many tests. Blood tests, urine tests, physical examinations, and genetic testing may be done. You may have lots of different doctors and consultants from different departments trying to diagnose you, before a diagnosis of Gitelman Syndrome can be made.

These may include:-

  • Endocrinology : (medicine concerned with hormones)
  • Nephrology : (medicine that deals with the diseases of kidneys)
  • Rheumatology :(study of disorders of the joints and muscles and ligaments)
  • Genetic counselling : (talks about your genes in your family)

At some point, you may see doctors in these areas when you are diagnosed because Gitelman Syndrome often needs a multidisciplinary approach.

Clinical Tests

  • Blood tests may show low levels of potassium, magnesium, and calcium.
  • Blood tests may also show high renin and aldosterone levels.
  • ECG testing (heart lead trace) may show changes in the shape of the heartbeats or may show funny rhythms, usually fast.
  • 24hr urine shows low calcium.
  • Metabolic Alkalosis (in which the pH of the tissues are elevated beyond normal levels and causes the bicarbonate levels to rise).
  • Genetic blood tests and genetic counselling (which talks about your genes in your family).