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Osteologie 2009; 18(04): 269-274
DOI: 10.1055/s-0037-1619906
Seltene Knochenerkrankungen
Schattauer GmbH

Osteoporose - Symptom seltener genetischer Erkrankungen

Osteoporosis as a symptom for rare hereditary disorders
U. Kornak
1   Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin
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Further Information

Publication History

eingereicht: 08 October 2009

angenommen: 19 October 2009

Publication Date:
30 December 2017 (online)

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Zusammenfassung

Das Skelett zeigt bei einer Vielzahl von Erkrankungen, bei denen primär Symptome in anderen Organen auffallen, begleitende Veränderungen, die häufig in einer Verringerung der Knochenmineraldichte bestehen. Solange keine Anzeichen für eine unmittelbar erhöhte Frakturgefahr bestehen, werden solcheVeränderungen verständlicherweise häufig am Rande zur Kenntnis genommen, da andere Probleme klinisch im Vordergrund stehen. Es sollte hierbei jedoch beachtet werden, dass eine im konventionellen Röntgenbild erkennbare Osteopenie für den noch jungen Betroffenen langfristig Konsequenzen haben kann, da sie im höheren Alter zu einem verfrühten Eintreten einer biomechanisch bedeutsamen Verringerung der Knochenmasse prädisponieren kann. Diese kurze Übersichtsarbeit will anhand einer Auswahl von hereditären und daher naturgemäß sehr seltenen Erkrankungen, bei denen zumindest eine deutliche Osteopenie, meist aber auch eine erhöhte Frakturneigung dokumentiert ist, zeigen, welche Punkte differenzialdiagnostisch beachtet werden müssen und in welcher Beziehung die verschiedenen Pathomechanismen zueinander stehen.

Summary

A number of disorders that primarily affect other organ systems also entail skeletal changes, often resulting in a reduced bone mass. As in most cases this radiologically detectable osteopenia does not lead to an increased fracture risk immediately it is often regarded as a minor aspect of the disease. However, it should be considered that a reduced peak bone mass predisposes for an increased fracture risk later in life. This overview presents some rare hereditary disorders that include reduced bone mineral density and - in some cases - also an increased fracture risk. Aspects important for the differential diagnosis and the relations between the different pathomechanisms are discussed.

Schlüsselwörter

Osteopenie - Osteoporose - Knochenmineraldichte - Frakturrisiko

Keywords

Osteopenia - osteoporosis - bone mass - fracture risk
 

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