Gitelmans syndrom - en differensialdiagnose ved hypokalemi
Engelsk titel: Gitelman's syndrome - a differential diagnosis in hypokalemia
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Författare:
Hovland A
;
Björbaek E
;
Leren TP
Email: anders.hovland@nordlandssykehuset.no
Språk: Nor
Antal referenser: 18
Dokumenttyp:
Fallbeskrivning
UI-nummer: 04061241
Sammanfattning
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.