Analyse des Gens 11ß-Hydroxysteroid Dehydrogenase.
Die Mutation dieses Gens führt zu einer fehlenden Inaktivierung von Cortisol in der Niere dieser Patientin und dadurch zu einer Cortisol induzierten Natriumretention im Corticalen Sammelrohr, was zu einer sog. low renin, low aldosterone hypertersion führte ( Labor Nephrologie / Hypertonie ), die sich dank rationaler Pharmakotherapie normalisieren liess.
Für wissenschaftliche Projekte
www.nephrologie.insel.chAnalysis of the gene 11ß-hydroxysteroid dehydrogenase.
The mutation of this gene leads to a missing inactivation of cortisol in the kidney of this female patient and thus to a cortisol induced sodium retention in the cortical collecting duct.This low renin, low aldosterone hypertension ( laboratory of the Department of Nephrology and Hypertension ) could be normalized by a rational pharmacotherapy.
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