All of the following statements about Bater Syndrome and Gitelman's Syndrome are true, except:
Answer is C (Genetic defect in Bater Syndrome involves the transpo proteins in the distal tubule) Genetic defect in Bater Syndrome is located in the thick ascending limb of the loop of Henle. Features Bater Syndrome Gitelman's Syndrome (Mimics Loop Diuretics) (Mimics Thiazide Diuretics) Inheritance * Autosomal recessive disorder. * Autosomal recessive disorder Pathophysiology * Genetic defect in the thick ascending limb of the * Genetic defect in the distal tubule Loop of Henle * Defect in Na-Cl cotranspoer in the distal * Defects in Na-K-2C/ coLtranspoer, K or Cl channels result in lack of concentrating ability tubule Age of Presentation * Early in lift. * Late childhood or early adulthood. Clinical * No Hypeension * No Hypeension (Can see lower than presentation: average blood pressure due to salt wasting). * Polyuria and nocturia in 50-80%. * Polyuria and polydipsia common * Often present with neuromuscular symptoms * Neuromuscular symptoms are uncommon or mild such as muscle cramping and spasms, significant fatigue. Often presents with sensorineural deafness, triangular facies with drooping mouth, large eves and pinnae, and renal failure. Lab data: * Chloride resistant metabolic alkalosis * Chloride-resistant metabolic alkalosis * Hvpokalemia * * Hypokalemia. * Normal serum magnesium (may be low). * Hypomagnesemia * Increased Urinary Calcium Excretion * Decreased Urinary calcium excretion (Hypercakiuric so at risk for kidney stones or * Ibpocalciuric so no increased risk of kidney nephrocalcinosis) stones or nephrocalcinosis) Renal PGE2 production * Increased * Normal
Autosomal Recessive Inheritance
Bater Syndrome Presents earlier in life than Gitelman's Syndrome
Genetic defect in Bater Syndrome involves the transpo proteins in the distal tubule
Hypercalciuria is more common in Bater Syndrome