Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia. It is caused by loss of function mutations of the thiazide sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving.
HOW IS GITELMAN SYNDROME DIAGNOSED?
Diagnosis of the same is done by a general physician who would do a CT scan also check for genetic mutations via blood tests.
HOW IS GITELMAN SYNDROME TREATED?
There is no cure for Gitelman syndrome. The mainstay of treatment for affected individuals is oral potassium and magnesium supplements. For many individuals, lifelong daily supplementation with magnesium is recommended. In some cases, during severe muscle cramps, magnesium has been given intravenously.
DID YOU KNOW?
The main problem with Gitelman Syndrome is that the symptoms may not come forth accurately, which in turn slows down the diagnosis process and hence the treatment of the same too.