Article
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
Nature genetics - 1 Oct 1996
Simon D B, Karet F E, Rodriguez-Soriano J, Hamdan J H, DiPietro A, Trachtman H, Sanjad S A, Lifton R P
Abstract excerpt
Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. NKCC2 mutations can be excluded in some Bartter's kindreds, prompting examination of regulators of cotransporter activity. One regulator is believed to be ROMK, an ATP-sensitive K+ channel that 'recycles' reabsorbed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.