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 thiazide sensitive sodium-chloride symporter(also known as NCC, NCCT, or TSC) located in the distal convoluted tubule. [1] 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 . [2]
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 thiazide sensitive sodium-chloride symporter(also
known as NCC, NCC, or !C" located in the distal convoluted
tubule.#$%&itelman syndrome was formerly considered a subset of
'artter syndrome until the distinct genetic and molecular bases of
these disorders were identified. 'artter syndrome is also an
autosomal recessive hypokalemic metabolic alkalosis, but it derives
from a mutation to the N(CC) found in the thick ascending limb of
the loop of *enle.#)%
