All of the following statements about Bater&;s syndrome are true, except:
Correct Answer: Genetic defect in transpo protein of distal tubule
Description: Genetic defect in Bater syndrome is located in the thick ascending limb of the loop of Henle. Bater&;s syndrome: Resembles Loop diuretics Inheritance: Autosomal recessive disorder Pathophysiology: Resembles Loop diuretics Genetic defect involving the transpoer&;s in the thick ascending limb of the loop of henle. Defects in Na+-K-2Cl cotranspoer, K or Cl channels result in lack of concentrating ability Clinical presentation: History of polyuria and polydypsia Hypokalemic metabolic alkaosis without Hypeension Presents early in life, often with sensineural deafness , traingular facies with drooping mouth and large eyes and pinnae, and renal failure. Laboratory Data: Chloride resistant Metabolic Alkalosis and Hypokalemia Normal serum magnesium Increased Urinary Calcium Excretion Ref: Harrisons 19th edition
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