Hereditary hypokalemic tubulopathies

Things to remember for Bartter's , Gitelman's & Liddle's syndrome

- all present with hypokalemia + metabolic alkalosis

- Liddle's syndrome is autosomal dominant and associated with hypertension while the other two are recessive and normotensive. It is caused by mutation of epithelial sodium channel, thus hypertension is very sensitive to diuretics which target on ENaC (amiloride, triamterene)

- Bartter's syndrome is associated with increased urine calcium, and juxtaglomerular apparatus hyperplasia, associated with renal stone and nephrocalcinosis. Secondary hyperaldosteronism is characteristic (plasma volume is low despite normal blood pressure, thus stimulate renin release)

- Gitelman's syndrome is associated with low urine calcium and hypomagnesemia. Treatment is potassium and magnesium supplements.