Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia. It is caused by loss of function mutations of the thiazidesensitive sodium-chloride symporter located in the distal convoluted tubule. Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the NKCC2 found in the thick ascending limb of the loop of Henle.
U.S. National Library of Medicine
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
The numerical value of gitelman syndrome in Chaldean Numerology is: 3
The numerical value of gitelman syndrome in Pythagorean Numerology is: 5
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"gitelman syndrome." Definitions.net. STANDS4 LLC, 2017. Web. 24 May 2017. <http://www.definitions.net/definition/gitelman syndrome>.