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      Managing the patient with osteogenesis imperfecta: a multidisciplinary approach

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          Abstract

          Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable. The primary manifestations are fractures, bone deformity, and bone pain, resulting in reduced mobility and function to complete everyday tasks. OI affects not only the physical but also the social and emotional well-being of children, young people, and their families. As such, medical, surgical, and allied health professionals’ assessments all play a role in the management of these children. The multidisciplinary approach to the treatment of children and young people living with OI seeks to provide well-coordinated, comprehensive assessments, and interventions that place the child and family at the very center of their care. The coordinated efforts of a multidisciplinary team can support children with OI to fulfill their potential, maximizing function, independence, and well-being.

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          LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

          Yaoqin Gong, Roger B Slee, Naomi Fukai … (2001)
          In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass.
          Article 0 comments Cited 418 times – based on 0 reviews     Review now
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            Genetic heterogeneity in osteogenesis imperfecta.

            D Sillence, A Senn, D M Danks (1979)
            An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.
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              CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

              Maria Boyce, MaryAnn Weis, Francis H Glorieux … (2006)
              Prolyl hydroxylation is a critical posttranslational modification that affects structure, function, and turnover of target proteins. Prolyl 3-hydroxylation occurs at only one position in the triple-helical domain of fibrillar collagen chains, and its biological significance is unknown. CRTAP shares homology with a family of putative prolyl 3-hydroxylases (P3Hs), but it does not contain their common dioxygenase domain. Loss of Crtap in mice causes an osteochondrodysplasia characterized by severe osteoporosis and decreased osteoid production. CRTAP can form a complex with P3H1 and cyclophilin B (CYPB), and Crtap-/- bone and cartilage collagens show decreased prolyl 3-hydroxylation. Moreover, mutant collagen shows evidence of overmodification, and collagen fibrils in mutant skin have increased diameter consistent with altered fibrillogenesis. In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms. Hence, dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Multidiscip Healthc
                Journal ID (iso-abbrev): J Multidiscip Healthc
                Journal ID (publisher-id): Journal of Multidisciplinary Healthcare
                Title: Journal of Multidisciplinary Healthcare
                Publisher: Dove Medical Press
                ISSN (Electronic): 1178-2390
                Publication date Collection: 2017
                Publication date (Electronic): 04 April 2017
                Volume: 10
                Pages: 145-155
                Affiliations
                [1 ]Metabolic Bone Disease Team
                [2 ]Academic Unit of Child Health, Department of Human Metabolism, University of Sheffield, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
                Author notes
                Correspondence: Caroline Marr, Metabolic Bone Disease Team, Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire S10 2TH, UK, Tel +44 114 226 7890, Fax +44 114 226 7832, Email Caroline.Marr@ 123456sch.nhs.uk
                [*]

                These authors contributed equally to this work

                Article
                Publisher ID: jmdh-10-145
                DOI: 10.2147/JMDH.S113483
                PMC ID: 5388361
                PubMed ID: 28435282
                SO-VID: 8639398e-d81e-440f-bca4-80cd9b186e2f
                Copyright © © 2017 Marr et al. This work is published and licensed by Dove Medical Press Limited
                License:

                The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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                Subject: Review

                ScienceOpen disciplines: Medicine
                Keywords: physical therapy,occupational therapy,bisphosphonates,nursing,psychology,pediatrics
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                ScienceOpen disciplines: Medicine
                Keywords: physical therapy, occupational therapy, bisphosphonates, nursing, psychology, pediatrics

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