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
Child
Diabetic Ketoacidosis
Gitelman Syndrome
Humans
Male
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1030048
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