What is Gitelman syndrome and how does it cause hypomagnesemia?

Updated: Oct 30, 2020
  • Author: Tibor Fulop, MD, PhD, FACP, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Gitelman syndrome is an autosomal-recessive condition caused by mutations of the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). [96] This syndrome is characterized by hypokalemia, hypomagnesemia, and hypocalciuria. [97]

Hypomagnesemia is found in most patients with Gitelman syndrome and is assumed to be secondary to the primary defect in the NCCT, but some data point to magnesium wasting as a primary abnormality. [98] Some studies have indicated that magnesium wasting in Gitelman syndrome may be due to down-regulation of TRPM6 in the DCT.


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