Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1- 10 in 40,000, estimated to be higher in Asians.
It occurs due to inactivating mutations in the SLC12A3 gene that encodes thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal tubule.
↑ Nacl delivery to distal nephron →
- ↑ K+ and ↑ H+ secretion → Hypokalemia Metabolic alkalosis
- Volume Contraction → ↑ Renin
↑ Ca++ reabsorption → Hypocalciuria
↓ Mg++ reabsorption → Hypermagnesuria, Hypomagnesemia
Dr. Missy Hanna @dr_missyhanna
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