Decreased Activity of Pendrin: which normally functions as a sodium-independent chloride-bicarbonate exchanger on the apical membrane of type B intercalated cells in the distal nephron, working in conjunction with the neutral sodium-chloride cotransporter, to maintain normal sodium chloride balance
Diagnosis
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Clinical Manifestations
Cardiovascular Manifestations
Hypovolemia (see Hypovolemic Shock, [[Hypovolemic Shock]]): occurs only when these patients are treated with thiazide diuretics (which inhibit the neutral sodium-chloride cotransporter)
Endocrinologic Manifestations
Hypothyroidism with Goiter
Renal Manifestations
Metabolic Alkalosis (see Metabolic Alkalosis, [[Metabolic Alkalosis]]): occurs only when these patients are treated with thiazide diuretics (which inhibit the neutral sodium-chloride cotransporter)