Inherited Defects in Kidney Tubule Epithelial Cells



Renal glucosuria - Na+-dependent glucose cotransporter

Cystinuria - Amino acid transporter

Bartter syndrome - Na-K-2Cl cotransporter, K channel, Cl channel, or barrtin (recruits Cl channel to basolateral membrane) in thick ascending limb

Gitelman syndrome - Thiazide-sensitive Na—Cl cotransporter in distal convoluted tubule

Liddle syndrome - Increased open time and number of principal cell epithelial sodium channels

Pseudohypoaldosteronism - Decreased activity of epithelial sodium channels or defective mineralocorticoid receptor

Distal renal tubular acidosis - alpha-Intercalated cell Cl-/HCO3- exchanger,H+-ATPase

Nephrogenic diabetes insipidus - Vasopressin-2 (V2) receptor or aquaporin-2 deficiency

Nephrogenic syndrome of inappropriate antidiuresis - Increased vasopressin-2 (V2) receptor activity



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