Osteogenesis imperfecta—pathophysiology and therapeutic options

被引：37
|
作者：
Julia Etich
Lennart Leßmeier
Mirko Rehberg
Helge Sill
Frank Zaucke
Christian Netzer
Oliver Semler
机构：
[1] Orthopedic University Hospital Friedrichsheim gGmbH,Dr. Rolf M. Schwiete Research Unit for Osteoarthritis
[2] Institute of Human Genetics,University of Cologne, Faculty of Medicine and University Hospital Cologne
[3] University of Cologne,Department of Pediatrics, Faculty of Medicine and University Hospital Cologne
[4] University of Cologne,Faculty of Medicine and University Hospital Cologne, Center for rare diseases
来源：
Molecular and Cellular Pediatrics | / 7卷 / 1期
关键词：
Osteogenesis imperfecta; Pathophysiology; Genetic heterogeneity; Therapy; Bisphosphonates;
D O I：
10.1186/s40348-020-00101-9
中图分类号：
学科分类号：
摘要：
Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options.
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