Article
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.
The American journal of medicine - 15 Feb 2002
Peters Melanie, Jeck Nikola, Reinalter Stephan, Leonhardt Andreas, Tönshoff Burkhard, Klaus G G ünter, Konrad Martin, Seyberth Hannsjörg W
Abstract excerpt
PURPOSE: Hypokalemic salt-losing tubulopathies (Bartter-like syndromes) comprise a set of clinically and genetically distinct inherited renal disorders. Mutations in four renal membrane proteins involved in electrolyte reabsorption have been identified in these disorders: the furosemide-sensitive sodium-potassium-chloride cotransporter NKCC2, the potassium channel ROMK, the chloride channel ClC-Kb, and the...
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