Tubular Transport Disorders
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Tubular Transport Disorders conditions
Bartter SyndromeBartter Syndrome is a rare inherited kidney disorder causing defective salt reabsorption in the thick ascending limb, leading to hypokalemia and metabolic alkalosis.Fanconi SyndromeFanconi Syndrome is a proximal renal tubule disorder causing impaired reabsorption of glucose, amino acids, phosphate, and bicarbonate, leading to metabolic acidosis.Gitelman SyndromeGitelman Syndrome is a genetic disorder causing defective renal tubule salt reabsorption, leading to low potassium, low magnesium, and metabolic alkalosis.Liddle SyndromeLiddle Syndrome is a rare genetic disorder causing hypertension due to increased sodium reabsorption from mutations in epithelial sodium channels.Syndrome of Apparent Mineralocorticoid Excess (SAME)Syndrome of Apparent Mineralocorticoid Excess (SAME) is a genetic disorder causing hypertension and hypokalemia due to 11-beta hydroxysteroid dehydrogenase deficiency.