[Molecular physiopathology of Bartter's syndrome].
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 syndrome. All the involved proteins are expressed either in the apical or basolateral membrane of the thick ascending limb of Henle's loop. These clinical and molecular findings have increased our understanding of the Bartter's disease and also of the thick ascending limb physiology.
Meade
Patricia
P
Unidad de Fisiología Molecular, Departamento de Nefrología y Metabolismo Mineral, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México. patymeade@hotmail.com
Sabath
Ernesto
E
Gamba
Gerardo
G
D001477:Bartter Syndrome / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008138:Loop of Henle / Q000502:physiology; D009154:Mutation
Fisiopatología molecular del síndrome de Bartter.