Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- recurrent fragility fractures
- chronic pain
- blue-gray sclera
- joint laxity
- bone deformities
- spinal abnormalities
- short stature
- dental abnormalities
- hearing loss
- abnormal facial features
Otros factores de diagnóstico
- skin fragility
- easy bruising
- muscle weakness
- cardiorespiratory signs and symptoms
Factores de riesgo
- family history of OI
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- skeletal survey
- genetic testing
- dual-energy x-ray absorptiometry (DXA)
Pruebas diagnósticas que deben considerarse
- audiology
- spirometry
- echocardiogram
Algoritmo de tratamiento
all patients
Colaboradores
Autores
Brendan Lee, MD, PhD
Robert and Janice McNair Endowed Chair in Molecular and Human Genetics
Professor and Chairman
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston
TX
Divulgaciones
Baylor College of Medicine has received a research grant from Sanofi for a phase 1 clinical trial in which BL was the principal investigator (PI). The trial (NCT03064074) evaluated the safety of fresolimumab, an anti-transforming growth factor (TGF)-beta antibody therapy in development, in the treatment of moderate-to-severe osteogenesis imperfecta. The trial was funded by the National Institutes of Health Rare Diseases Clinical Research Network's Brittle Bone Disorders Consortium. Since completion of the phase 1 trial evaluating fresolimumab, BL receives license royalties on anti-TGF-beta antibody therapy for osteogenesis imperfecta via Baylor College of Medicine. Other trials of anti-TGF-beta antibody therapy for this indication are underway but BL is not involved as PI.
Sandesh C. S. Nagamani, MBBS, MD
Professor and Vice Chair for Clinical Research
Department of Molecular and Human Genetics
Baylor College of Medicine
Houston
TX
Divulgaciones
SCSN has received research funding from Sanofi for OI-related clinical translational research.
Revisores por pares
Stuart H. Ralston, MB ChB, MD, FRCP, FMedSci, FRSE
Versus Arthritis Professor of Rheumatology
University of Edinburgh
Edinburgh
UK
Divulgaciones
SHR declares supply of Teriparatide from Eli Lilly for a clinical trial in osteogenesis imperfecta. SHR is a member of the Scientific Advisory Board of the Brittle Bone Society (unpaid) and an external examiner for Oxford University for Clinical Trials MSc (personal financial). SHR declares travel expenses for meeting attendance (UCB, Kyowa Kirin, AbbVie), consultancy for Kyowa Kirin (non personal), and unrestricted educational grants to his institution from AbbVie, Accord, Novartis, Pfizer, Alexion, Amgen, Sandoz, Thornton and Ross, Janssen, Eli Lilly, and UCB.
David R. Deyle, MD
Associate Professor of Medical Genetics
Mayo Clinic
Rochester
MN
Divulgaciones
DRD declares that he has no competing interests.
Referencias
Artículos principales
Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106.Texto completo Resumen
Mueller B, Engelbert R, Baratta-Ziska F, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018 Sep 10;13(1):158.Texto completo Resumen
Chaney H, Mekking D, De Bakker D, et al. Key4OI recommendations for lung function guidance in osteogenesis imperfecta: based on an internationally performed comprehensive international consortium for health outcomes measurement procedure. Chest. 2023 May;163(5):1201-13.Texto completo Resumen
Liu W, Lee B, Nagamani SCS, et al. Approach to the patient: pharmacological therapies for fracture risk reduction in adults with osteogenesis imperfecta. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1787-96.Texto completo Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Nonaccidental injury
- Idiopathic juvenile osteoporosis
- Hypophosphatasia
Más DiferencialesGuías de práctica clínica
- Key4OI recommendations for lung function guidance in osteogenesis imperfecta
- Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
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