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Description of Gitelman Syndrome
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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.#)%
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