no
no
no

Gitelman syndrome

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: 
author profile image
Abdelghafour

Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book.

no
Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)