Article
Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia.
American journal of physiology. Renal physiology - 1 Jun 2010
Kemter Elisabeth, Rathkolb Birgit, Bankir Lise, Schrewe Anja, Hans Wolfgang, Landbrecht Christina, Klaften Matthias, Ivandic Boris, Fuchs Helmut, Gailus-Durner Valérie, Hrabé de Angelis Martin, Wolf Eckhard, Wanke Ruediger, Aigner Bernhard
Abstract excerpt
The bumetanide-sensitive Na(+)-K(+)-2Cl(-) cotransporter NKCC2, located in the thick ascending limb of Henle's loop, plays a critical role in the kidney's ability to concentrate urine. In humans, loss-of-function mutations of the solute carrier family 12 member 1 gene (SLC12A1), coding for NKCC2, cause type I Bartter syndrome, which is characterized by prenatal onset of a severe polyuria, salt-wasting...
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