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[Gitelman's syndrome--a differential diagnosis in hypokalemia].

Anders Hovland, Eyvind Bjørbaek, Trond P. Leren

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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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What this paper is about

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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Available 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.

Key concepts: Gitelman syndrome, Hypokalemia, Medicine, Hypocalciuria, Internal medicine, Potassium, Bartter's syndrome, Differential diagnosis

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