Bartter’s Syndrome
Pathophysiology: Described in 1962 by Bartter. Autosomal recessive disorder. Genetic defect involving the transporter’s in the thick ascending limb of the glomerulus. Defects in Na-K-2Cl cotransporter, K or Cl channels result in lack of concentrating ability.
Clinical presentation: Early in life. Often with sensorineural deafness (has to due with potassium-secreting dark cells of inner ear), triangular facies with drooping mouth and large eyes and pinnae, and renal failure. Pts c/o polyuria and polydi psia.
Lab data: Chloride resistant metabolic alkalosis and hypokalemia (due to increased distal flow causing hyperaldo state and wasting of potassium and hydrogen). Normal serum magnesium. Hypercalciuric so at risk for kidney stones.