Article
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
Kidney international - 1 Jan 2003
Zelikovic Israel, Szargel Raymonde, Hawash Ali, Labay Valentina, Hatib Ihab, Cohen Nadine, Nakhoul Farid
Abstract excerpt
BACKGROUND: Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary hypokalemic tubulopathies with distinct phenotypic features. GS has been considered a genetically homogeneous disorder caused by mutation in the gene encoding the NaCl cotransporter (TSC) of the distal convoluted tubule. In contrast, BS is caused by mutations in the genes encoding either the Na-K-2Cl cotransporter (NKCC2), the K+ channel...
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