Article
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Journal of the American Society of Nephrology : JASN - 1 Aug 2000
Konrad Martin, Vollmer Martin, Lemmink Henny H, VAN DEN Heuvel Lambertus P W J, Jeck Nikola, Vargas-Poussou Rosa, Lakings Alicia, Ruf Rainer, Deschênes Georges, Antignac Corinne, Guay-Woodford Lisa, Knoers Nine V A M, Seyberth Hannsjörg W, Feldmann Delphine, Hildebrandt Friedhelm
Abstract excerpt
ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter syndrome (cBS). Hypokalemic metabolic alkalosis and renal salt wasting are the common characteristics of all three subtypes. Hypocalciuria...
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