Food and drug administration fda for the treatment of oi. The mainstay of treatment is bisphosphonate therapy. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Anesthesia recommendations for patients suffering from osteogenesis imperfecta disease name. Osteogenesis imperfecta is a rare condition caused by an abnormality of the extracellular matrix. Pamidronate is the most commonly used bisphosphonate in osteogenesis imperfecta oi. Osteogenesis imperfecta is a genetic disorder that is characterized by bones that break easily, often from little or no apparent cause. The main causes for developing the disorder are a result of mutations in the col1a1 and. The foundations mission is to improve the quality of life for people affected by oi through research to find treatments.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. This paper will examine the causes, treatment, and prognosis of osteogenesis imperfecta. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder. Pdf current and emerging treatments for the management of. Pathophysiology and therapeutic options in osteogenesis imperfecta. Pdf osteogenesis imperfecta is a common heritable connective tissue disorder. Osteogenesis imperfecta is a genetic disorder that causes increased bone fractures and collagen defects. Oral cavity problems related to osteogenesis imperfecta may include the following. This disease causes bones to be very weak and break with little or no trauma. Osteogenesis imperfecta genetics home reference nih. Multiple fractures are common, and in severe cases, can even occur before birth. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta.
Bisphosphonate therapy is sometimes used to treat people with osteogenesis imperfecta oi. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentists advice and treatment. Osteogenesis imperfecta type v genetic and rare diseases. It causes bone fragility leading to fractures that may be frequent, and a variable articular hyperlaxity. Other more recent drug therapies include teriparatide and denosumab. Not all doctors agree on how they should be used to treat people with oi. A person with mild oi may experience a few fractures while those with the severe forms may. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta.
Osteogenesis imperfecta multisystemic and lifelong disease. Treatment was performed with pamidronate 1 mgkgcycle, every 3 months. Osteogenesis imperfecta oi, also known as brittle bone disease, is the most common genetic bone disorder and its prevalence is estimated. Pathophysiology and therapeutic options in osteogenesis. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Osteogenesis imperfecta great ormond street hospital.
The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Genetic testing is available for individuals with osteogenesis imperfecta. Osteogenesis imperfecta type v is a moderate type of osteogenesis imperfecta oi. Instead, multidisciplinary treatment aims to prevent symptoms, develop muscle.
Oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Treatment for osteogenesis imperfecta is done to manage the symptoms of this disease as there is no cure for it. This paper presents a case report of a patient with osteogenesis imperfecta and dentinogenesis imperfecta who was provided prosthetic treatment, including endodontic treatment of the obliterated teeth. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. Osteogenesis imperfecta oi is a disorder which causes the bones to break easily. Osteogenesis imperfecta oi refers to a heterogeneous group of congenital, nonsexlinked, genetic disorders of collagen type i production, involving connective tissues and bones. Its primary feature is fractures usually caused by minimal impact. Treatment with zoledronic acid za over 2 years, among 33 children with osteogenesis imperfecta oi and five bruck syndrome cases, showed reduction in fracture rates, pain, and improvement in. The present report describes a 10year old saudi female child with osteogenesis imperfecta and dental problems.
Intravenous bisphosphonate infusions are the most widely used medical treatment. Osteogenesis imperfecta news and research rss osteogenesis imperfecta oi is a rare genetic disorder that, like juvenile osteoporosis, is characterized by bones that break easily, often from. Osteogenesis imperfecta oi is a genetic condition present from birth. Osteogenesis imperfecta awareness week 2019 by the governor of the state of north carolina a proclamation whereas, osteogenesis imperfecta 01, also known as brittle bone. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Osteogenesis imperfecta is a disorder of connective tissue characterized by thinwalled, extremely fractureprone bones deficient in osteoblasts boneforming cells, as well as by malformed teeth, blue sclerae, and progressive deafness. For many years, surgical correction of deformities, physiotherapy, and the use of orthotic support and devices to assist mobility eg, wheelchairs were the primary means of treatment. These teeth may be misshapen, may chip or break easily, and will require special care. Because osteogenesis imperfecta oi is a genetic condition, it has no cure. Assessing and managing osteogenesis imperfecta nursing times. The main objective of all treatment for this disease is minimizing fractures. Osteogenesis imperfecta type iv oi type iv is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. Nine patients diagnosed with oi were admitted to the first pediatric clinic. Full text full text is available as a scanned copy of the original print version.
Brittle bone disease osteogenesis imperfecta texas childrens. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal. Get a printable copy pdf file of the complete article 481k, or click on a page image below to browse page by page. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient. Pamidronate treatment of osteogenesis imperfecta lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. 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. To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta oi. The goal of treatment is to prevent deformities and fractures and allow the child to function as. Osteogenesis imperfecta oi is a rare inherited condition affecting 1.
All medications have the potential for side effects including bisphosphonates. In severe oi types, such as iii or iv, orthognathic surgery is discouraged, despite. Current and emerging treatments for the management of. It is caused by a mutation to the gene that controls the production of. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. The term osteogenesis imperfecta means imperfect bone formation. Therapy with pamidronate in children with osteogenesis imperfecta. Anesthesia recommendations for patients suffering from. The identification of the first gene for recessive osteogenesis imperfecta in 20061, 2 initiated a burst of exciting new information about the genetics and mechanism of this bone dysplasia. Osteogenesis imperfecta oi is a genetic disorder characterized.
Clear aligners are a promising option for orthodontic treatment. A classification system of different types of oi is commonly. Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most. Dental care for people with osteogenesis imperfecta. Osteogenesis imperfecta radiology reference article. During the three months of treatment, serum alkaline phosphatase, urinary hydroxyproline, and urinary calcium decreased significantly in the patients with pagets disease, and, in the patient with osteogenesis imperfecta. Osteogenesis imperfecta is an inherited disorder of connective tissue caused by type i collagen defects, thus all tissues rich in type i collagen are affected. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Osteogenesis imperfecta overview nih osteoporosis and. Effects of bisphosphonates in children with osteogenesis. Dentinogenesis imperfecta di type 2 is a disease inherited in a simple autosomal dominant mode.
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