This renal disorder arises from a mutation of the receptors for ADH (anti diuretic hormone or vasopressin) or the aquaporins which are water channels.
In Barrter's syndrome, there is a mutation which inhibits the activity of the NaK2Cl cotransporter, which is the molecule normally inhibited by frusemide. The clinical effects of Barrter''s syndrome are therefore the same as excess frusemide and include loss of sodium, potassium and water. The body's response to this is to raise aldosterone levels in an attempt to conserve sodium.