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Nebenschilddrüsen und Vitamin-D-Stoffwechsel

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Endokrinologie des Kindes- und Jugendalters
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Zusammenfassung

Die Einführung molekularbiologischer Klonierungs- und Untersuchungsmethoden hat — in einem erstaunlich kurzen Zeitraum — das Verständnis der calcium-regulierenden Hormonsysteme in einem außerordentlichen Ausmaß verbessert. Dadurch ist es in vielen Fällen nicht nur möglich geworden, für eine Reihe von Erkrankungen die pathogenetischen Ursachen zu etablieren, sondern auch die biologische und pathophysiologische Bedeutung vieler Hormone besser zu beurteilen. Klinisch-chemische Laborbestimmungen, in Kombination mit der Messung zirkulierender Hormonkonzentrationen und/oder organspezifischer Enzyme, sind auch weiterhin für die Diagnostik endokrinologischer Störungen der Calciumhomöostase meist vollkommen ausreichend. Bei einer wachsenden Zahl von endokrinologischen oder metabolischen Erkrankungen kann es jedoch indiziert sein, molekularbiologische Untersuchungsverfahren hinzuzuziehen. Dadurch ist es in vielen Fällen möglich geworden, die pathophysiologischen Grundlagen der jeweiligen Erkrankung aufzuklären, Verfahren zur pränatalen Diagnostik zu entwickeln, die Prognose einer kongenitalen Erkrankung besser zu beurteilen und ggf. frühzeitig gezielte therapeutische Maßnahmen einzuleiten. Die Aufklärung von zunächst komplex erscheinenden genetischen Erkrankungen hat damit häufig ganz wesentlich zum Verständnis der endokrinologischen Regelkreise und der extraglandulären Manifestationen eines bestimmten Hormonoder Rezeptordefektes beigetragen.

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Jüppner, H., Krohn, HP. (1997). Nebenschilddrüsen und Vitamin-D-Stoffwechsel. In: Stolecke, H. (eds) Endokrinologie des Kindes- und Jugendalters. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59043-6_8

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