|
Definition English:
|
|
A group of disorders caused by the defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA, hypercalciuria, metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes resulting from mutations of autosomal recessive genes for SODIUM-POTASSIUM-CHLORIDE COTRANSPORTERS. |