Journal article
Hypokalemia and the pathology of ion transport molecules
Seminars in nephrology, Vol.18(1), pp.31-45
01/1998
PMID: 9459287
Abstract
Serum potassium is normally maintained within a narrow range through an exquisite balance between cellular K+ efflux and influx, and between the intake and output of potassium from the body. Ultimately such balances are determined by cell membrane molecules which effect K+ transfer from one milieu to another. Over the last decade, electrophysiological and molecular techniques of study, briefly reviewed in this article, have helped to define the biochemical and functional characteristics of many of the molecules responsible for potassium homeostasis. When combined with molecular genetics, the same technology allows for the ultimate definition of hereditary or familial disease states characterized by hypokalemia. Familial hypokalemic periodic paralysis is associated with mutations of the dihydropyridine receptor gene encoding the L-type Ca+2 channel, but how such mutations result in episodic hypokalemia and paralysis remains a mystery. Mutations in several genes involved in renal ion transport also result in hypokalemia. Among them, Liddle's syndrome, or pseudohyperaldosteronism, has been linked to increased surface expression of the epithelial sodium channel (ENaC) responsible for Na+ transport in the cortical collecting duct. On the other hand, Bartter's syndrome, characterized by defective salt reabsorption by the ascending limb of Henle's loop, is associated with mutations in either the NKCC2 gene encoding the loop's 1Na+-1K+-2Cl- cotransporter, or in the ROMK gene, which allows K+ recycling in the loop to occur from cell to lumen, making Na+ reabsorption via the cotransporter possible. In Gitelman's syndrome, which clinically appears as a milder form of Bartter's, the abnormal gene encodes the thiazide sensitive Na+-Cl- cotransporter operating in the distal convoluted tubule.
Details
- Title: Subtitle
- Hypokalemia and the pathology of ion transport molecules
- Creators
- L M Antes - Renal Section, Department of Veterans Affairs Medical Center, Philadelphia, PA 19104, USAD A KujubuP C Fernandez
- Resource Type
- Journal article
- Publication Details
- Seminars in nephrology, Vol.18(1), pp.31-45
- PMID
- 9459287
- ISSN
- 0270-9295
- eISSN
- 1558-4488
- Grant note
- DK-07006 / NIDDK NIH HHS DK-09575 / NIDDK NIH HHS
- Language
- English
- Date published
- 01/1998
- Academic Unit
- Nephrology; Internal Medicine
- Record Identifier
- 9984094602202771
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