Osteogenesis imperfecta

Jenis VI

Berkongsi ciri-ciri klinikal dengan Jenis IV, tetapi memiliki jumpaan tulang ("sisik ikan") yang unik secara histologi

Type VIII

OI caused by mutation in the gene LEPRE1 is classified as type VIII.

Treatment

At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.
There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat those experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive. The U.S. Food and Drug Administration (FDA) will not approve Fosamax as a treatment for OI because long term effects of the drug have not been fully researched yet, although it is often used in preteens, instead of Pamidronate.
Although there is no known cure for OI, regular weight-bearing exercise, a diet rich in calcium and vitamin D, a healthy lifestyle, and, in some cases, vitamin supplements will help off-set early development of osteoporosis, prevent future fractures, and delay other health concerns related to OI.
Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.

Physiotherapy

Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure.
Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

Physical aids

With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.

Bisphosphonates

Bisphosphonates (BPs), particularly those containing nitrogen, are being increasingly administered to increase bone mass and reduce the incidence of fracture. BPs can be dosed orally (e.g. alendronate) or by intravenous injection/infusion (e.g. pamidronate, zoledronic acid).
BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in reducing fracture rates in children, however only a trend towards decreased fracture was seen in a small randomized study in adults. While decreasing fracture rates, there is some concern that prolonged BP treatment may delay the healing of OI fractures, although this has not been conclusively demonstrated.
Pamidronate is used in USA, UK and Canada. Some hospitals, such as most Shriners, provide it to children. Some children are under a study of pamidronate. Marketed under the brand name Aredia, Pamidronate is usually administered as an intravenous infusion, lasting about three hours. The therapy is repeated every three to six months, and lasts for the life of the patient. Common side effects include bone pain, low calcium levels, nausea, and dizziness. According to recent results, extended periods of pamidrinate, (i.e.;6 years) can actually weaken bones, so patients are recommended to get bone densities every 6 months-1 year, to monitor bone strength.

Surgery

Metal rods can be surgically inserted in the long bones to improve strength, a procedure developed by Harold A. Sofield, MD, at Shriners Hospitals for Children in Chicago. During the late 1940s, Sofield, Chief of Staff at Shriners Hospitals in Chicago, worked there with large numbers of children with OI and experimented with various methods to strengthen the bones in these children. In 1959, with Edward A. Miller, MD, Sofield wrote a seminal article describing a solution that seemed radical at the time: the placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the world and still forms the basis for orthopedic treatment of OI.
Spinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems.

Sejarah

Keadaan, atau jenisnya, telah memiliki pelbagai nama menurut masa dan di negara berlainan. Antara pilihan lain yang paling biasa adalah sindrom Ekman-Lobstein, sindrom Vrolik, dan nama tidak rasmi penyakit tulang kaca. Nama osteogenesis imperfecta bertarikh seawal 1895 dan telah menjadi istilah perubatan biasa pada abad ke-20 sehingga kini. Sistem empat jenis masa kini bermula dengan Sillence pada tahun 1979. Sistem lebih lama menyifatkan jenis kurang teruk sebagai "osteogenesis imperfecta tarda" sementara bentuk lebih teruk dianggap "osteogenesis imperfecta congenita." Oleh kerana ini tidak membezakan dengan baik, dan kesemua bentuk merupakan kongenital, ini tidak lagi digunakan.
Keadaan ini telah didapati pada mummi Mesir Purba sejak 1000 BC. Raja orang Norse "Ivar Tak Bertulang" mungkin juga memiliki keadaan ini. Kajian awal mengenainya bermula pada tahun 1788 dengan Olof Jakob Ekman dari Sweden. Dia menggambarkan keadaan ini dalam thesis kedoktorannya dan menyebut kes mengenainya sejak seawal 1678. Pada tahun 1831, Edmund Axmann menggambarkannya pada dirinya dan dua saudara lelakinya. Jean Lobstein menghadapainya semasa dewasa pada tahun 1833. Willem Vrolik mengkaji keadaan tersebut pada tahun 1850-an. Idea bahawa bentuk dewasa dan kanak-kanak adalah sama muncul pada tahun 1897 oleh Martin Benno Schmidt.

Epidemiology

In the United States, the incidence of osteogenesis imperfecta is estimated to be 1 per 20,000 live births. An estimated 20,000 to 50,000 people are affected by OI in the United States.
Frequency is approximately the same across groups, but for unknown reasons the Shona and Ndebele of Zimbabwe seem to have a higher proportion of Type III to Type I than other groups. However, a similar pattern was found in segments of the Nigerian and South African population. In these varied cases the total number of OIs of all four types was roughly the same as any other ethnicity.