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Monogen vererbte Hypophosphatämien

  • Chapter
Molekularmedizinische Grundlagen von Endokrinopathien

Part of the book series: Molekulare Medizin ((MOLMED))

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Zusammenfassung

Es gibt 4 gut charakterisierte Erkrankungen, die durch einen renalen Phosphatverlust und eine Hypophosphatämie bedingt sind:

  • die X-chromosomal dominante Hypophosphatämie (XLH),

  • die autosomal-dominante hypophosphatämische Rachitis (ADHR),

  • die hereditäre hypophosphatämische Rachitis mit Hyperkalzurie (HHRH) und

  • die onkogene hypophosphatämische Osteomalazie (OHO). Die 3 zuerst genannten Erkrankungen werden monogen vererbt, die vierte ist erworben. Alle diese Erkrankungen führen zur Entwicklung einer Rachitis und/oder Osteomalazie. Die Häufigkeit der Hypophosphatämien wird insgesamt mit etwa 1:20000 angegeben und ist in den hoch entwickelten Industrieländern, in denen Vitamin D und Kalzium ausreichend in der Nahrung vorhanden sind, eine relativ häufige Ursache der Rachitis. Obwohl allen 4 Erkrankungen der renale Phosphatverlust gemeinsam ist, bestehen Unterschiede in der klinischen Ausprägung, im Vitamin-D-Metabolismus und der Antwort auf eine Phosphatsubstitution, die sich auch in der medikamentösen Behandlung niederschlagen.

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Authors
  1. Tim-M. Strom
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  2. Bettina Lorenz-Depiereux
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Editors and Affiliations

  1. Max-Delbrück-Centrum für Molekulare Medizin (MDC), Robert-Rössle-Str. 10, 13122, Berlin-Buch, Deutschland

    Detlev Ganten  & Klaus Ruckpaul  & 

  2. Abteilung für Endokrinologie, Universitätsklinikum Essen Zentrum für Innere Medizin, Hufelandstraße 55, 45122, Essen, Deutschland

    Onno E. Janssen

  3. Zentrum für Innere Medizin Abteilung Endokrinologie und Diabetologie, Klinikum der Philipps-Universität, Baldingerstraße/Lahnberge, 35033, Marburg, Deutschland

    Armin E. Heufelder

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Strom, TM., Lorenz-Depiereux, B. (2001). Monogen vererbte Hypophosphatämien. In: Ganten, D., Ruckpaul, K., Janssen, O.E., Heufelder, A.E. (eds) Molekularmedizinische Grundlagen von Endokrinopathien. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56858-9_11

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