[Gitelman's syndrome--a differential diagnosis in hypokalemia].
Anders Hovland, Eyvind Bjørbaek, Trond P. Leren
Abstract
Anders Hovland, Eyvind Bjørbaek, Trond P. Leren
Abstract
BACKGROUND: Gitelman's syndrome is a rare disease characterised by low levels of potassium and magnesium in the blood. It is caused by mutations in the gene encoding the thiazide-sensitive sodium chloride cotransporter in the distal collecting duct. MATERIAL AND METHODS: We present four patients (two brothers and two sisters) with Gitelman's syndrome and review the literature regarding the disease. RESULTS AND INTERPRETATION: Gitelman's syndrome should be considered in patients with persistently low levels of potassium and magnesium. The diagnosis is confirmed by genetic testing.
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BACKGROUND: Gitelman's syndrome is a rare disease characterised by low levels of potassium and magnesium in the blood. It is caused by mutations in the gene encoding the thiazide-sensitive sodium chloride cotransporter in the distal collecting duct. MATERIAL AND METHODS: We present four patients (two brothers and two sisters) with Gitelman's syndrome and review the literature regarding the disease. RESULTS AND INTERPRETATION: Gitelman's syndrome should be considered in patients with persistently low levels of potassium and magnesium. The diagnosis is confirmed by genetic testing.
Key concepts: Gitelman syndrome, Hypokalemia, Medicine, Hypocalciuria, Internal medicine, Potassium, Bartter's syndrome, Differential diagnosis