Hyponatremia and Hypocalcemia in Gitelman Syndrome

What is it about?

Gitelman syndrome (GS) is a recessive salt-losing tubulopathy due to a mutation of genes encoding the sodium chloride cotransporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule.

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Why is it important?

Gitelman syndrome (GS) is caused by inactivating mutations in the gene for the sodium chloride channel (thiazide-sensitive NCC) of the distal convoluted tubule, called SLC12A3 [1]. Usual age of presentation is late childhood or early adolescence. GS is characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and low urinary calcium excretion [2]. They also have normal serum sodium and calcium usually.