Gordon Syndrome

Gordon syndrome (also called Familial Hyperkalaemic Hypertension, or Pseudohypoaldosteronism Type 2) is an ultrarare genetic disease where the kidneys absorb too much salt. It is caused by mutations affecting proteins that regulate the activity of a salt transporting protein (the Sodium Chloride Cotransporter or NCC). The genes that are mutated to cause this are WNK1, WNK4, KLHL3 and CUL3.

  • Because the mutations that cause this disease cause overactivity of the NCC protein, it shows the exact opposite features to Gitelman syndrome, which is caused by underactivity of NCC.

    High blood pressure is one of the symptoms, which is worsened by a high salt diet. The blood pressure is usually relatively mild and easily treated.

    High levels of potassium are also recorded in the blood (hyperkalaemia) and the blood levels of bicarbonate to be low (acidosis). The levels of potassium in the blood are not usually high enough to be a problem.

    Furthermore, the amount of calcium in the urine tends to be high, and this can lead to kidney stones formation.

  • Gordon syndrome is a Dominant Genetic disease. This means that only one parent needs to be affected to be able to pass the disease to their children. The chance of doing so is 50% per child.

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

  • Gordon syndrome is very sensitive to treatment with a Thiazide diuretic (such as Bendroflumethiazide), which will treat the blood pressure, potassium and acidosis as well as the calcium in the urine.

  • Gordon syndrome is a genetic and therefore lifelong condition. The clinical features are mild and life expectancy and quality of life are normal. Overall kidney function is rarely affected.