Gitelman syndrome presenting with cerebellar ataxia: a case report

Excerpt

Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria [1]. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter. Gitelman’s syndrome is diagnosed in childhood or adulthood often because of weakness, tetany, or joint pain. Other major symptoms of Gitelman syndrome are dizziness, fatigue, cramps, paresthesia, non-specific pain, and arthropathy due to chondrocalcinosis. Patients with Gitelman syndrome have milder renal salt wasting and often have normal or only slightly low blood pressures. Hypokalemia and metabolic alkalosis are important to the diagnosis and, as mentioned earlier, hypomagnesemia and hypocalciuria are relatively common in contrast with Bartter syndrome. …