Molecular basis of Bartter’s syndrome: new insights into the correlation between genotype and phenotype

The kidney plays a key role in determining the long-term set points of fluid and electrolyte balance, maintaining homoeostasis despite wide variation in environmental exposure. Maintenance of the correct ionic composition and volume of the intravascular space is critical for normal neuromuscular function, delivery of oxygen and nutrients to tissues, as well as for blood pressure. Derangements in kidney function, due to mutations in the mediators of renal Na+ reabsorption, may cause a number of mendelian forms of hyper- and hypotension that arise from changes in intravascular volume and abnormalities of electrolyte homoeostasis. Inherited renal tubular disorders associated with hypokalaemic metabolic alkalosis (Bartter-like synd-romes) can be divided into at least three clinica