Liddle's syndrome

Liddle's syndrome
Diagram of the inheritance of the syndrome
SpecialtyNephrology

Liddle's syndrome, also called Liddle syndrome,[1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone.[1] Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008.[2]

  1. ^ a b Young, William. "Genetic disorders of the collecting tubule sodium channel: Liddle's syndrome and pseudohypoaldosteronism type 1". UpToDate.
  2. ^ Rossier BC, Schild L (October 2008). "Epithelial sodium channel: mendelian versus essential hypertension". Hypertension. 52 (4): 595–600. doi:10.1161/HYPERTENSIONAHA.107.097147. PMID 18711011.