Abstract:
Gitelman syndrome (GS) is an autosomal recessively
inherited salt loosing tubulopathy with a prevalence
of 1-10 per 40,000 people (1, 2). The prevalence
of GS is higher in Asia than other countries (2). GS
is characterized by hypokalaemic metabolic
alkalosis, hypomagnesaemia and hypocalciuria (3).
It is typically seen in late childhood or adulthood.
Symptoms are related to the degree of electrolyte
disturbance. Cramps of the limbs are present among
almost all and fatigability, polyuria, polydipsia,
chondrocalcinosis are the other reported symptoms
(1, 4). Clinical manifestations are less pronounced
in heterozygotes (1).
Here we report a case of GS presented with a
hypokalaemic periodic quadriparesis.
