Gitelman syndrome (GS) is an auto- somal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. In the great majority of cases, GS is caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive NaCl co- transporter (NCCT), which is specifically expressed in the apical membrane of cells along the distal convoluted tubule
Diabetic ketoacidosis complicated with previously unknown Gitelman syndrome in a Tunisian child
Marigliano, Marco;
2011-01-01
Abstract
Gitelman syndrome (GS) is an auto- somal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. In the great majority of cases, GS is caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive NaCl co- transporter (NCCT), which is specifically expressed in the apical membrane of cells along the distal convoluted tubule
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