Gitelman syndrome
Pronunciation: GEE-tel-man
A hereditary salt-losing nephropathy causing hypomagnesemia and hypocalciuria in children and adolescents.
Full Definition
Gitelman syndrome is an autosomal recessive tubulopathy caused by mutations in the NCCT gene affecting the distal convoluted tubule. Unlike Bartter syndrome, Gitelman syndrome typically presents later in childhood or adolescence with muscle weakness, fatigue, and salt craving. The hallmark laboratory findings include hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. Children may experience muscle cramps, tetany, or cardiac arrhythmias. Treatment focuses on magnesium and potassium supplementation, with careful attention to maintaining adequate electrolyte balance during growth periods.
Usage
Usage note: Named after Dr. Hillel Gitelman; always capitalize the eponym.
In Context
- "The adolescent's recurrent muscle cramps and hypomagnesemia suggested Gitelman syndrome." — case presentation
- "Unlike Bartter syndrome, Gitelman syndrome typically manifests with hypocalciuria." — review article