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Osteologie 2018; 27(04): 194-199
DOI: 10.1055/s-0038-1676922
Seltene Knochenerkrankungen – Rare bone diseases
Georg Thieme Verlag KG Stuttgart · New York

Pathophysiologie und Therapie der Osteogenesis imperfecta

Pathophysiology and treatment in Osteogenesis imperfecta
O. Semler
1   Klinik für Kinder- und Jugendmedizin, Uniklinik Köln
,
M. Rehberg
1   Klinik für Kinder- und Jugendmedizin, Uniklinik Köln
,
H. Hoyer-Kuhn
1   Klinik für Kinder- und Jugendmedizin, Uniklinik Köln
› Author Affiliations
Further Information

Publication History

eingereicht: 02 August 2018

angenommen: 19 September 2018

Publication Date:
18 December 2018 (online)

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Zusammenfassung

Die Osteogenesis imperfecta (OI) ist die häufigste angeborene Skeletterkrankung im Kindes- und Jugendalter. Sie beruht in den meisten Fällen auf Mutationen, die die Kollagensynthese beeinträchtigen. Bei sehr unterschiedlichen Verlaufsformen besteht keine klare Genotyp-Phänotyp-Korrelation. Führendes Symptom sind rezidivierende Frakturen bei inadäquaten Traumata, aber auch extra-skelettale Symptome wie eine Muskelhypotonie oder Schwerhörigkeit gehören dazu. Die Therapie beinhaltet orthopädisch/chirurgische Maßnahmen zur Frakturversorgung und Korrektur von Deformierungen. Die medikamentöse Behandlung beschränkt sich im Kindesalter auf antiresorptive Medikamente wie Bisphosphonate oder das in Erprobung befindliche Denosumab. Nach Ende des Wachstums werden auch osteoanabole Medikamente eingesetzt. Wichtigste Maßnahme zur Anregung des Knochenaufbaus ist die Kräftigung der Muskulatur durch Physiotherapie und Rehabilitation. Um diese Maßnahmen auf einander abzustimmen und Erfahrungen für weitere Therapieverbesserungen zu sammeln, sollte die Behandlung dieser Patienten in spezialisierten Zentren erfolgen.

Summary

Osteogenesis imperfecta (OI) is the most frequent hereditary bone disease during childhood. In most cases OI is caused by mutations affecting collagen production. Phenotypes of patients differ substantially and there is no clear genotype-phenotype correlation. Main symptom is an increased fracture rate due to inadequate traumata. Additionally, extra-skelettale signs like muscle hypotonia and hearing impairments are frequently reported. The multimodular therapy includes surgical procedures to treat fractures and to correct deformities. During childhood drug therapy is limited to the use of bisphosphonates. Other antiresorptive drugs like Denosumab are currently under investigation. After end of growth osteoanabolic agents like Teriparatide or Antisclerostin can be used. Most important is a regular training including physiotherapy and rehabilitation. To coordinate these therapies the care of the patients need to be centralized. Such a treatment in specialized centers will allow to learn more about natural history of the disease and to improve the care.

Schlüsselwörter

Osteogenesis imperfecta - Therapie - Pathophysiologie - Bisphosphonate

Keywords

Osteogenesis imperfecta - therapy - pathophysiology - bisphosphonates
 

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