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Published on: March 23, 2022
[Gitelman's syndrome--a differential diagnosis in hypokalemia]
Anders Hovland1, Eyvind Bjørbaek, Trond P Leren
1Medisinsk avdeling, Nordlandssykehuset HF, 8092 Bodø. anders.hovland@nordlandssykehuset.no
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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