Biomaterial Database

Osteogenesis imperfecta: diagnosis and treatment. 2017

Telma Palomo, and Tatiane Vilaça, and Marise Lazaretti-Castro

aBone and Mineral Unit, Division of Endocrinology, Universidade Federal de São Paulo, Brazil bAcademic Unit of Bone Metabolism, University of Sheffield, Sheffield, United Kingdom.

OBJECTIVE Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. RESULTS Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission. Intravenous bisphosphonate infusions are the most widely used medical treatment. This has a marked effect on vertebra in growing children and can lead to vertebral reshaping after compression fractures. However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation. CONCLUSIONS Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010013	Osteogenesis Imperfecta	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.	Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002657	Child Development	The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.	Infant Development,Development, Child,Development, Infant
D004164	Diphosphonates	Organic compounds which contain P-C-P bonds, where P stands for phosphonates or phosphonic acids. These compounds affect calcium metabolism. They inhibit ectopic calcification and slow down bone resorption and bone turnover. Technetium complexes of diphosphonates have been used successfully as bone scanning agents.	Bisphosphonate,Bisphosphonates
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090602	Collagen Type I, alpha 1 Chain	A fibrillar collagen found predominantly in BONE and SKIN.	COL1A1 Protein,Collagen Type I, alpha 1 Subunit,Collagen alpha 1 (I),Pro alpha 1 Collagen,Pro-alpha1(I) Collagen,Procollagen alpha1(I),Type I Collagen alpha 1,Protein, COL1A1
D050723	Fractures, Bone	Breaks in bones.	Bone Fractures,Broken Bones,Spiral Fractures,Torsion Fractures,Bone Fracture,Bone, Broken,Bones, Broken,Broken Bone,Fracture, Bone,Fracture, Spiral,Fracture, Torsion,Fractures, Spiral,Fractures, Torsion,Spiral Fracture,Torsion Fracture
D024042	Collagen Type I	The most common form of fibrillar collagen. It is a major constituent of bone (BONE AND BONES) and SKIN and consists of a heterotrimer of two alpha1(I) and one alpha2(I) chains.	Type 1 Collagen,Type I Collagen,Collagen, Type 1,Collagen, Type I