Gitelman's syndrome

Clinical features:

Hypokalaemia
Renal Na
+ and Cl- wasting
Reduced ECF volume
Metabolic alkalosis
Hyperrenninaemia
Hypomagnesaemia
Hypocalcuria
Normal response to ADH

Molecular lesion:

Loss of function of the sodium chloride cotransporter (NCCT) in the apical membrane of the early distal convoluted tubule.  This is the site of action of thiazide diuretics.

 

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