Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome

Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus. Patient was put on potassium sparing diuretics along with supplements and thereafter, has been asymptomatic. There have been very few case reports on Gitelman syndrome in pregnancy and most of them show favourable outcomes. This is a rare case report of a pregnant female with Gitelman syndrome with foetal loss.