All of the following statements about Bater&;s syndrome are true, except:
Genetic defect in transpo protein of distal tubule
Metabolic Alkalosis
Hypokalemia
Increase in urinary calcium
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
Kidney