This disease causes bones to be very weak and break with little or no trauma. Osteogenesis imperfecta genetics home reference nih. This collagen is needed to produce sturdy and strong bone, dentin, sclera, and ligaments in the body. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Osteogenesis imperfecta the medical biochemistry page. Pathophysiology and therapeutic options in osteogenesis imperfecta. These birth cohort analyses reflect moresevere types of osteogenesis imperfecta and do not. Cyclical iv therapy with pamidronate improves the clinical course in children and adolescents with osteogenesis imperfecta oi. In this study we evaluated the effect of this therapy on bone and mineral metabolism in 165 patients with oi types i, iii, and iv age, 2 wk to 17. Oi is caused by defects in or related to a protein called type 1 collagen pronounced koluhjuhn. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal fragility. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primar ily affect bone. It also tells you about the highly specialised service for oi based at gosh. Type ii also known as perinatally lethal osteogenesis imperfecta is the most severe.
Low oxygen causes severe problems the lungs transfer oxygen from the air you breathe into the blood. The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Pathophysiology and therapeutic options in osteogenesis. Its primary feature is fractures usually caused by minimal impact. Bone fragility is greatly increased in osteogenesis imperfecta. Multiple fractures are common, and in severe cases, can even occur before birth. Learn osteogenesis imperfecta with free interactive flashcards.
Jan 22, 2020 osteogenesis imperfecta oi, commonly called brittle bone disease, is a disease that causes a defect in the production of collagen protein. Osteogenesis imperfecta oi is a generalized disorder of connective tissue manifested by bone fragility, blue sclerae, and other variable soft tissue manifestations. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. In 1835, lobstein coined the term osteogenesis imperfecta other names for oi. Collagen is an essential building block of the body. The basic pathophysiology seen osteogenesis imperfecta is the absence of one of the two genes responsible for the production of collagen type 1.
Osteogenesis imperfecta brittle bone disease types niams. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Pathogenesis of osteogenesis imperfecta velidi rao. People with oi also have weak muscles and bone deformities. Mar 19, 2020 genetic and clinical features of osteogenesis imperfecta. Osteogenesis imperfecta types ixi ceconnection for nursing. Brittle bone disease rare genetic disorder in which bone are fragile and fracture easily resulting in bone deformity an autosomal dominant disease a person with oi has a 50% chance of passing on the gene and the disease to their children.
The term osteogenesis imperfecta means imperfect bone formation. As discussed above, col1a1 null alleles cause dominant oi through a mechanism of. Osteogenesis imperfecta oi is in danger of becoming a catchall term for earlyonset bone fragility. Osteogenesis imperfecta oi is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to mutations affecting the normal synthesis of type i collagen. Epidemiology studies from europe and the united states have found a birth prevalence of osteogenesis imperfecta of 0. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Reduced bone mass and abnormalities of cortical thickness and trabecular architecture play a role but these abnormalities are compounded by defects in bone matrix, which profoundly affect bone quality.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. The classic features of type i oi include bone fragility and bluish sclera. Lobstein disease, brittle bone disease, bluesclera syndrome, and fragilebone disease 3. Osteogenesis imperfecta great ormond street hospital. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. There are at least four clinical subtypes, most of which have an autosomal dominant inheritance, but new mutations occur, especially in the lethal forms. Type i also known as classic nondeforming osteogenesis imperfecta with blue sclerae is the mildest form of osteogenesis imperfecta. Practice collagen mutations result in osteogenesis imperfecta with khan academys free online exercises. Symptoms may be mild or severe, depending on the type of oi you have. Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a childs quality of life and ability to function.
Because children with osteogenesis imperfecta often have numerous medical needs, a number of specialists may be involved in their care. The fundamental abnormality in oi is an inability to produce a bone matrix capable of providing the mechanical, remodeling, and regenerative properties of the axial, appendicular, and cranial skeleton. Osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Also called brittle bone disease one of the most common congenital connective tissue matrix diseases disease of type i collagen due to mutations in genes coding for alpha 1 2 collagen chains, usually autosomal dominant. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Bone material properties in osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Aug 18, 2017 osteogenesis imperfecta also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. Collagen mutations result in osteogenesis imperfecta. Sep 24, 2017 osteogenesis imperfecta now have additional genes that cause brittle bones and is slowly spreading across generations and countries osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the col1a1 and col1a2 that encode type i procollagen. The key feature that discriminates oi from other earlyonset bone fragility conditions is the hypermineralization of the bone material itselfhence the alternative name brittle bonedisease. Substantial evidence has now accumulated that most cases of oi are due to defects in the expression or structure of type i collagen, the principal collagen of bone. Choose from 227 different sets of osteogenesis imperfecta flashcards on quizlet.
Pathophysiology of bone fragility in osteogenesis imperfecta. Osteogenesis imperfecta an overview sciencedirect topics. The condition presents complex challenges on anatomical, medical and sociopsychological levels. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta oi, what causes it and how it can be managed. Osteogenesis imperfecta oi is a complex group of disorders characterized by excessive fragility of bone and pathologic fractures. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Feb 06, 20 earliest known case of osteogenesis imperfecta in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. Collagen is an important protein that helps to support the body.
Apr 26, 2009 osteogenesis imperfecta oi is the most common of the inherited connective tissue disorders that primarily affect bone. Osteogenesis imperfecta is a bone disorder characterized by. Osteogenesis imperfecta also known as brittle bone disease or oi is a genetic condition that causes a defect in a protein found in bonescalled collagen. Osteogenesis imperfecta nursing care management and study guide. Pdf pathophysiology and therapeutic options in osteogenesis. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Osteogenesis imperfecta was classified several years ago into four types based on clinical, radiological and genetic features sillence, 1988. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. This genetic defect accounts for almost 80% of all osteogenesis imperfecta cases 3. Osteogenesis imperfecta, trauma, fracture, bone deformities, blue sclerae, dentinogenesis imperfecta. A hereditary condition resulting from a decrease or abnormalitly in the amount of normal type i collagen. Osteogenesis imperfecta oi is a disease that causes your bones to break easily. Pdf evelise brizola,1 temis m felix,2 jay r shapiro3 1bone and osteogenesis imperfecta department, kennedy krieger institute, johns. Osteogenesis imperfecta oi is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to.
A multidisciplinary approach offers the best chance for children with oi, says daniel w. Two proalpha1 chains and one proalpha2 chain make up type i collagen, which forms the main protein of. Osteogenesis imperfecta is a complex multisystem disorder characterised by bone fragility, frequent fractures and bony deformity. Type i oi is an autosomal dominant disease that is referred to as the mild type. However, it is a systemic disorder, as evidenced by the occurrence of ocular complications, dentinogenesis imperfecta, hearing loss, joint laxity, restrictive pulmonary disease, and short stature. Osteogenesis imperfecta overview nih osteoporosis and. Feb 11, 2020 pathophysiology of bone fragility in osteogenesis imperfecta. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Feb 16, 2018 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
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