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
Images & Illustrations of gitelman syndrome
Find a translation for the gitelman syndrome definition in other languages:
Select another language:
Discuss these gitelman syndrome definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"gitelman syndrome." Definitions.net. STANDS4 LLC, 2017. Web. 22 Oct. 2017. <http://www.definitions.net/definition/gitelman syndrome>.