Universität zu Köln

Semler, O., Rehberg, M. and Hoyer-Kuhn, H. (2018). Pathophysiology and Therapy for Patients with Osteogenesis imperfecta. Osteologie, 27 (4). S. 194 - 200. STUTTGART: GEORG THIEME VERLAG KG. ISSN 2567-5818

Full text not available from this repository.

Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Semler, O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rehberg, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyer-Kuhn, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-163329
Journal or Publication Title:	Osteologie
Volume:	27
Number:	4
Page Range:	S. 194 - 200
Date:	2018
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	2567-5818
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TERIPARATIDE TREATMENT; HEARING-LOSS; CHILDREN; PAMIDRONATE; ADULTS; BISPHOSPHONATE; NATIONWIDE; EFFICACY; SAFETY Multiple languages Orthopedics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/16332