Liddle syndrome is caused by a genetic defect in
Liddle syndrome is caused by hyperactivity of the Amiloride-sensitive sodium channel (ENaC) of the principal cell of the coical collecting tubule. Liddle syndrome is a rare autosomal dominant disorder of renal epithelial transpo that clinically resembles primary aldosteronism with hypeension and hypokalemia metabolic alkalosis and with low plasma renin and aldosterone levels. Bater syndrome (Mimics loop diuretics) Gitelman&;s syndrome (MImics Thiazide Diuretics) Liddle Syndrome (Mimics Primary Aldosteronism) Autosomal recessive disorders Autosomal recessive disorder Autosomal Dominant Genetic defect in the thick ascending limb of loop of henle Defects in Na-K-2Cl co-transpoer , K or Cl channels result in lack of concentrating ability Genetic defect in the distal tubule Defect in Na-Cl cotranspoer in the distal tubule Genetic defect in the collecting tubule Caused by hyperactivity of the Amiloride-sensitive sodium channel (ENaC) of the principal cell of the coical collecting tubule Presentation Diagnosis Hypokalemic- Metabolic acidosis with Hypeension Liddle&;s syndrome Hypokalemic Metabolic Alkalosis without hypeension Bater syndrome (Increased urinary Ca Excretion) Gitelman&;s syndrome (Decreased Urinary Ca Excretion) Ref: Ganong
Na-K-2Cl co-transpoer in the thick ascending limb of loop of henle
Na-Cl cotranspoer in the distal tubule
ENasodium Channel in collecting duct/tubule
The aquaporin 2 (AQP2) channel in collecting duct
Renal physiology