Zusammenfassung
Die primäre Nebenniereninsuffizienz ist durch eine erniedrigte Produktion von Glukokortikoiden (Kortisol) mit oder ohne erniedrigter Produktion von Mineralokortikoiden (Aldosteron) gekennzeichnet. Die Diagnose der Nebenniereninsuffizienz ist wegen seiner unspezifischen klinischen Symptome oft verzögert. Allerdings können eine verpasste Diagnose einer Nebenniereninsuffizienz oder deren unzureichende Behandlung tödlich sein. Bei den Ursachen der primären Nebenniereninsuffizienz im Kindesalter lassen sich genetische Störungen der Nebennierenentwicklung (adrenale Dysgenesien), der einzelnen enzymatischen Schritte der Steroidhormonsynthese, der ACTH-Wirkung, metabolische Störungen sowie erworbene, hauptsächlich autoimmune, Ursachen unterscheiden.
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Kamrath, C., Riepe, F. (2020). Primäre Nebenniereninsuffizienz bei Kindern und Jugendlichen. In: Hiort, O., Danne, T., Wabitsch, M. (eds) Pädiatrische Endokrinologie und Diabetologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-57309-9_34
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