Universität zu Köln

Semler, Oliver, Kornak, Uwe, Oheim, Ralf and Seefried, Lothar (2020). Pathophysiology and therapeutic options in osteogenesis imperfecta. Osteologie, 29 (4). S. 302 - 311. STUTTGART: GEORG THIEME VERLAG KG. ISSN 2567-5818

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Abstract

Osteogenesis imperfecta (OI) is the most common hereditary disease causing an increased bone fragility. The wide variability of the phenotype can not be explained by the genotype. Most forms are caused by mutations in genes influencing synthesis and posttranslational modification of collagen. Most patients are affected by mutations in the genes COL1A1/A2. The increased knowledge about underlying genetic alteration and pathophysiology in some rare recessive forms has led to new therapeutic strategies. OI VI is caused by mutations in SERPINF1 leading to an increased activity of osteoclasts via the OPG/RANKL-pathway. In these patients a medical treatment with denosumab has been proven to be more effective as antiresorptive treatment compared to the former therapy with bisphosphonates. In patients affected by mutations in WNT1 an osteoanabolic treatment might be more suitable than an antiresorptive therapy. Pharmacological treatment has to be included in an interdisciplinary therapeutic concept in combination with physiotherapy and surgical treatment.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Kornak, Uwe UNSPECIFIED UNSPECIFIED UNSPECIFIED Oheim, Ralf UNSPECIFIED UNSPECIFIED UNSPECIFIED Seefried, Lothar UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-319922
DOI:	10.1055/a-1233-9812
Journal or Publication Title:	Osteologie
Volume:	29
Number:	4
Page Range:	S. 302 - 311
Date:	2020
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 INT-1 PROTOONCOGENE; CHILDREN; PAMIDRONATE; MUTATIONS; MOUSE; DENOSUMAB; PROTEINS; REGION; SAFETY; ADULTS Multiple languages Orthopedics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31992