title: Hereditary disorders of potassium homeostasis.
abstract: There has been a dramatic recent increase in the understanding of the renal epithelial transport systems with the identification, cloning and characterization of a large number of membrane transport proteins. The aim of this chapter is to integrate this body of knowledge with the understanding of the clinical disorders that accompany gain, loss or dysregulation of function of these transport systems. The specific focus is on the best-defined human clinical syndromes in which there are derangements in potassium (K(+)) homeostasis. The focus is on inherited syndromes, rather than on acquired syndromes due to tubular transport defects, and the therapeutic approaches address chronic derangements of K(+) homeostasis rather than acute interventions directed at life-threatening hyperkalaemia.
authors.affiliation: Division of Nephrology, Departments of Medicine and Physiology, Nephrology Research and Training Center, University of Alabama at Birmingham, 647 THT, 1530 3rd Avenue South, Birmingham, AL 35294-0006, USA. dwarnock@nrtc.uab.edu
authors.forename: David G
authors.initials: DG
authors.lastname: Warnock
mesh_terms: D006706:Homeostasis; D006801:Humans; D006947:Hyperkalemia / Q000235:genetics* / Q000378:metabolism; D006973:Hypertension / Q000235:genetics; D011188:Potassium / Q000378:metabolism*; D015221:Potassium Channels / Q000378:metabolism*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
chemical_list: D015221:Potassium Channels; D011188:Potassium