Zusammenfassung
Es gibt 4 gut charakterisierte Erkrankungen, die durch einen renalen Phosphatverlust und eine Hypophosphatämie bedingt sind:
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die X-chromosomal dominante Hypophosphatämie (XLH),
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die autosomal-dominante hypophosphatämische Rachitis (ADHR),
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die hereditäre hypophosphatämische Rachitis mit Hyperkalzurie (HHRH) und
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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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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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