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Current Osteoporosis Reports Dec 2023This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those... (Review)
Review
PURPOSE OF REVIEW
This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. The authors draw on published literature and direct experience of working in a large paediatric centre specialising in the management of rare bone disease.
RECENT FINDINGS
Whilst understanding of the pathophysiology of OI has grown over the past decade, the evidence base for management of infants remains limited. There has been a greater recognition of certain subjects of concern including pain management, cervical spine deformity, and neurocognitive development. Both international consensus guidelines on rehabilitation and disease-specific growth charts have been welcomed by clinical teams. The early involvement of multidisciplinary specialist care is critical in ensuring optimal care for the infant with severe OI. A long-term perspective which focuses on the axial, craniofacial, and peripheral skeleton as well as on development more generally provides a framework which can guide the management of infants with severe OI.
Topics: Child; Infant; Humans; Osteogenesis Imperfecta; Diphosphonates; Bone and Bones
PubMed: 37752354
DOI: 10.1007/s11914-023-00823-5 -
Wiener Medizinische Wochenschrift (1946) Jul 2015Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been... (Review)
Review
Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the sclera. During childhood state of the art medical treatment are i.v. bisphosphonates to increase bone mass and to reduce fracture rate. Surgical interventions are needed to treat fractures, to correct deformities and should always be accompanied by physiotherapeutic and rehabilitative interventions.
Topics: Collagen Type I; Collagen Type I, alpha 1 Chain; Combined Modality Therapy; DNA Mutational Analysis; Diphosphonates; Female; Fracture Fixation; Fractures, Spontaneous; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Infusions, Intravenous; Male; Osteoblasts; Osteoclasts; Osteogenesis Imperfecta; Physical Therapy Modalities
PubMed: 26055811
DOI: 10.1007/s10354-015-0361-x -
Osteoporosis International : a Journal... Oct 2022The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis...
The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis imperfecta. The COL1A1 mutations may affect collagen synthesis as well as post-translational modifications, extracellular matrix interactions, and receptor-mediated signaling. Major collagen binding ligands forming the interactome, such as cytokines, cell adhesion molecules, matrix metalloproteinases, proteoglycans, and other molecules, are autoimmunity targets involved in rheumatoid arthritis pathogenesis. Cross-talk between bone remodeling and inflammatory pathways involving osteoclasts is important in osteogenesis imperfecta and rheumatoid arthritis. In osteogenesis imperfecta, the structural abnormalities and repeated traumatism, including fractures, could activate locally the innate immunity and trigger arthritis, similar to post-traumatic arthritis. Currently, the therapy of osteogenesis imperfecta is a suboptimally met need. Understanding the complex putative pathogenic links between osteogenesis imperfecta and inflammatory arthritis could hopefully lead to new therapeutic targets. Raising awareness regarding a possible association between osteogenesis imperfecta and arthritis could help improve the quality of life in these patients.
Topics: Arthritis, Rheumatoid; Collagen Type I; Cytokines; Humans; Ligands; Mutation; Osteogenesis Imperfecta; Proteoglycans; Quality of Life
PubMed: 35984463
DOI: 10.1007/s00198-022-06530-8 -
Current Osteoporosis Reports Jun 2021The purpose of this review is to precise the indications for intramedullary rodding of long bones in osteogenesis imperfecta, the classic treatment for fractures and... (Review)
Review
PURPOSE OF REVIEW
The purpose of this review is to precise the indications for intramedullary rodding of long bones in osteogenesis imperfecta, the classic treatment for fractures and deformities in this condition.
RECENT FINDINGS
The use of plates and screws alone is not recommended, but its use in conjunction with rodding is becoming more popular as demonstrated in recent literature. The different types of rods are reviewed and their advantages/disadvantages exposed. There is a clear advantage for telescopic rods in terms of incidence of revision surgery but complications are still to be expected. An interdisciplinary approach combining a medical treatment with a surgical correction of deformities as well as a rehabilitation program is the key for success in the treatment of osteogenesis imperfecta children.
Topics: Braces; Child; Child, Preschool; Diphosphonates; Fracture Fixation, Intramedullary; Fractures, Bone; Humans; Infant; Internal Fixators; Osteogenesis Imperfecta; Reoperation
PubMed: 33646506
DOI: 10.1007/s11914-021-00665-z -
Journal of Bone and Mineral Metabolism Mar 2016Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization... (Review)
Review
Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V. Although IFITM5 is not directly involved in the formation of bone in vivo, the reason why IFITM5 mutations cause OI remains a major mystery. In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.
Topics: Animals; Humans; Membrane Proteins; Mutation; Open Reading Frames; Osteogenesis Imperfecta; Phenotype
PubMed: 26031935
DOI: 10.1007/s00774-015-0667-1 -
Current Osteoporosis Reports Sep 2014Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. OI is predominantly... (Review)
Review
Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. OI is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in OI over recent years. The clinical severity of OI can vary greatly, even within families who share a common mutation. Optimal management of OI requires a multidisciplinary approach involving pediatrician, endocrinologist (bone and mineral physician), rehabilitation specialist, orthopedic surgeon, dentist, geneticist, social worker/psychologist, physiotherapist, and occupational therapist. Bisphosphonate therapy remains the mainstay of medical treatment in OI and has been shown to decrease bone pain, enhance well-being, improve muscle strength and mobility and decrease fracture incidence. Novel therapies are beginning to emerge as more is understood about the signaling pathways involved in bone formation. The following summarizes the diagnosis, genetic heterogeneity and management of OI in pediatric practice.
Topics: Bone Density Conservation Agents; Collagen Type I; Collagen Type I, alpha 1 Chain; Diphosphonates; Fractures, Bone; Humans; Occupational Therapy; Osteogenesis Imperfecta; Patient Care Team; Physical Therapy Modalities
PubMed: 24964776
DOI: 10.1007/s11914-014-0225-0 -
Endocrine Development 2015Primary osteoporosis in childhood encompasses a range of bone fragility conditions that typically have a genetic origin. Understanding of the pathophysiology and... (Review)
Review
Primary osteoporosis in childhood encompasses a range of bone fragility conditions that typically have a genetic origin. Understanding of the pathophysiology and genetics of primary osteoporosis has increased dramatically over the past 10 years. The clinical manifestations and consequences of the disease range from mild to severe, with the degree of growth retardation and bony deformity reflecting the severity and the underlying pathology. In children, primary osteoporosis is most commonly caused by one of the forms of osteogenesis imperfecta, which comprises a group of disorders characterised by abnormalities in type I collagen synthesis or processing. Diagnosis of any primary osteoporotic condition depends on the clinical history and examination but may be supported by other investigations, including various imaging techniques, histology and genetic analyses. Good management requires a multidisciplinary approach involving paediatricians, surgeons and allied health professionals, amongst others. Bisphosphonate therapy has revolutionised the approach to management and has positively modified outcomes for many children and their families. Physiotherapy and occupational therapy are the keys to optimising independence in mobility and daily living. Surgery is required in many severe cases to straighten limbs or stabilise the spine. Bisphosphonates remain the mainstay of medical treatment, but there are a number of alternative therapeutic agents under investigation that may further improve management of primary osteoporosis in children over the coming years.
Topics: Absorptiometry, Photon; Diphosphonates; Genetic Testing; Humans; Orthopedic Procedures; Osteogenesis Imperfecta; Osteoporosis
PubMed: 26138841
DOI: 10.1159/000381037 -
Der Orthopade Aug 2014Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI...
BACKGROUND
Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI are inherited autosomal dominant and caused by a mutation in the collagen type I gene.
DIAGNOSTICS
Indications for OI are bone fragility, stunted growth, scoliosis, skull deformities, blue sclera, loss of hearing, dentinogenesis imperfecta and increased laxity of ligaments and skin. In most cases it is possible to make a clinical diagnosis but a skin biopsy or genetic testing can be useful; however, negative results for these tests do not exclude OI.
THERAPY
Therapy must be carried out in a multidisciplinary team and includes conservative (e.g. physiotherapy, rehabilitation programs and orthopedic aids), operative (e.g. intramedullary stabilization procedures) and pharmaceutical (e.g. biphosphonates and growth hormones) procedures.
PROGNOSIS
The prognosis depends on the type of OI and ranges from normal life expectations for type 1 patients up to up to perinatal mortality for type II patients.
Topics: Adolescent; Bone Density Conservation Agents; Child; Child, Preschool; Combined Modality Therapy; Female; Fracture Fixation, Intramedullary; Humans; Infant; Infant, Newborn; Male; Osteogenesis Imperfecta; Physical Examination; Physical Therapy Modalities; Tomography, X-Ray Computed
PubMed: 25116245
DOI: 10.1007/s00132-013-2229-3 -
Journal of Pediatric Health Care :... 2022
Topics: Humans; Osteogenesis Imperfecta
PubMed: 35279353
DOI: 10.1016/j.pedhc.2022.02.004 -
Journal of Bone and Mineral Research :... May 2022Osteogenesis imperfecta (OI) describes a series of genetic bone fragility disorders that can have a substantive impact on patient quality of life. The multidisciplinary... (Review)
Review
Osteogenesis imperfecta (OI) describes a series of genetic bone fragility disorders that can have a substantive impact on patient quality of life. The multidisciplinary approach to management of children and adults with OI primarily involves the administration of antiresorptive medication, allied health (physiotherapy and occupational therapy), and orthopedic surgery. However, advances in gene editing technology and gene therapy vectors bring with them the promise of gene-targeted interventions to provide an enduring or perhaps permanent cure for OI. This review describes emergent technologies for cell- and gene-targeted therapies, major hurdles to their implementation, and the prospects of their future success with a focus on bone disorders. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Topics: Adult; Bone Density Conservation Agents; Bone and Bones; Child; Genetic Therapy; Humans; Osteogenesis; Osteogenesis Imperfecta; Quality of Life
PubMed: 35306687
DOI: 10.1002/jbmr.4549