Jay R Shapiro1, Paul D Sponsellor. 1. Department Physical Medicine and Rehabilitation, Johns Hopkins University, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA. shapiroj@KennedyKrieger.org
Abstract
PURPOSE OF REVIEW: Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types. Diagnostic concerns involve testing procedures, either skin biopsies or DNA analysis. Bisphosphonates have been accepted as 'standard of care' for children with osteogenesis imperfecta. However, questions remain as to the selection of patients for treatment, effectiveness in fracture prevention, which bisphosphonates should be used and the duration of treatment. Orthopedic intervention occurs on several levels: including the immediate treatment of fractures, the treatment of scoliosis and the use of intramedullary rods. RECENT FINDINGS: The discovery of mutations involving CRTAP and LEPRE1 genes in severe/lethal and recessively inherited osteogenesis imperfecta has provided partial answers to questions about 'other' osteogenesis imperfecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1A2 mutations. Current experience suggests that DNA analysis is a better test for diagnosis as compared with dermal biopsy. There are no standardized guidelines for initiating bisphosphonate treatment in children. Recent data suggest either intravenous or oral bisphosphonates are effective, but differences exist between different bisphosphonates. Two recent reports document the paucity of evidence-based data regarding the effectiveness of bisphosphonate treatment in fracture prevention. SUMMARY: This report will update the medical and orthopedic approaches to care for children with osteogenesis imperfecta.
PURPOSE OF REVIEW: Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types. Diagnostic concerns involve testing procedures, either skin biopsies or DNA analysis. Bisphosphonates have been accepted as 'standard of care' for children with osteogenesis imperfecta. However, questions remain as to the selection of patients for treatment, effectiveness in fracture prevention, which bisphosphonates should be used and the duration of treatment. Orthopedic intervention occurs on several levels: including the immediate treatment of fractures, the treatment of scoliosis and the use of intramedullary rods. RECENT FINDINGS: The discovery of mutations involving CRTAP and LEPRE1 genes in severe/lethal and recessively inherited osteogenesis imperfecta has provided partial answers to questions about 'other' osteogenesis imperfecta genes in patients with an osteogenesis imperfecta phenotype but no COL1A1 and COL1A2 mutations. Current experience suggests that DNA analysis is a better test for diagnosis as compared with dermal biopsy. There are no standardized guidelines for initiating bisphosphonate treatment in children. Recent data suggest either intravenous or oral bisphosphonates are effective, but differences exist between different bisphosphonates. Two recent reports document the paucity of evidence-based data regarding the effectiveness of bisphosphonate treatment in fracture prevention. SUMMARY: This report will update the medical and orthopedic approaches to care for children with osteogenesis imperfecta.
Authors: Behrooz A Akbarnia; Robert M Campbell; Alain Dimeglio; Jack M Flynn; Gregory J Redding; Paul D Sponseller; Michael G Vitale; Muharrem Yazici Journal: J Child Orthop Date: 2011-04-27 Impact factor: 1.548
Authors: Enrique Gómez-Barrena; Philippe Rosset; Ingo Müller; Rosaria Giordano; Carmen Bunu; Pierre Layrolle; Yrjö T Konttinen; Frank P Luyten Journal: J Cell Mol Med Date: 2011-06 Impact factor: 5.310
Authors: Jay R Shapiro; Caressa Lietman; Monica Grover; James T Lu; Sandesh Cs Nagamani; Brian C Dawson; Dustin M Baldridge; Matthew N Bainbridge; Dan H Cohn; Maria Blazo; Timothy T Roberts; Feng-Shu Brennen; Yimei Wu; Richard A Gibbs; Pamela Melvin; Philippe M Campeau; Brendan H Lee Journal: J Bone Miner Res Date: 2013-07 Impact factor: 6.741