[Molecular physiopathology of Bartter's syndrome].

Abstract excerpt

Bartter's syndrome is an autosomic recessive disease characterized by hypokalemic metabolic alkalosis accompanied with hypercalciuria, polyuria and hypotension due to volume depletion. The pathophysiology of this hereditary disease was largely unknown until the last few years in which inactivating mutations in up to five different genes have been shown to produce or be associated with the development of this...

Topics

• Bartter Syndrome
• Humans
• Loop of Henle
• Mutation