Gitelman syndrome is an autosomal recessive condition characterised by hypokalaemia
and hypomagnesaemia.
It is caused by mutations in the genes coding for the NaCl and Mg transporters in the distal tubule resulting in decreased sodium and magnesium reabsorption.
Presentation:
- Lethargy
- Muscle cramps
- Weakness
- Hypotension/normal blood pressure
Biochemically:
- Hypokalaemia
- Hypomagnesaemia
- Hypocalciuria
- Metabolic alkalosis
- Hypereninaemic hyperaldosteronism
Treatment:
- Potassium replacement
- Magnesium replacement
- Amiloride
References:
