Osteogenesis imperfecta - Treatment

Surgical therapy includes: surgical correction of deformities, physiotherapy and support ortotica were the main therapeutic options for osteogenesis imperfecta. The practice of medical treatment to increase bone mass and bone hardness.Bisphosphonates are used, pamidronate, which inhibits osteoclast-mediated bone resorption by binding to hydroxyapatite.It is administered growth hormone to stimulate osteoclast function, recombinant human parathyroid hormone, bone marrow transplant.
Medical therapy:Biosfonatii:Intravenous pamidronate is effective for pain relief in infants and in some cases. Significantly improves the disease type III, IV by decreasing the frequency of fractures, increasing bone density, decreased bone pain and increase height. The adverse effects of pamidronate include acute febrile reaction, mild hypocalcemia, leukopenia, transient increase in bone pain and sclera with or without anterior uveitis. The forms of osteogenesis imperfecta usoase benefits bisphosphonate administration are still in evaluation. It may also indicate other bisphosphonates such as risedronate, alendronate, zoledronic acid.
Administration of growth hormone:Growth hormone is known to act on growth plate function and stimulates osteoblasts. It is beneficial for patients with quantities of collagen defect.Administration of recombinant human parathyroid hormone:Teriparatide is a recombinant form of PTH to increase the number and activity of osteoblasts. Because the risk of osteosarcoma is not yet approved for use in children.Bone marrow transplantation:Bone marrow contains mesenchymal stem cells and hematopoietic precursors of osteoblasts. It takes a lot of bone to support the production of normal fibroblasts. Required any immunosuppressive therapy can destroy bone transplant.Gene therapy: is explored in animal models, but major obstacles remain inherent difficulties: cystic fibrosis.
Surgical therapy:Surgery should only be used if you improve the function and purpose of treatment is clear. Soft tissue surgery is used in specific circumstances: lower limb contractures.Ortotice devices play a limited role in osteogenesis imperfecta and are used to stabilize lax joints and prevent progressive deformities and fractures.Osteotomies treated with bone deformities and fractures recurrent intramedullary stabilization with or without corrective osteotomies.Osteotomy should be simple, singular. Because bone is soft in osteogenesis imperfecta using rods, wires, plates and screws, hooks than harsh. Place the support rods in the tibia, humerus and arm.Placing the rods in scoliosis and kyphosis is inefficient as a rib cage is too fragile to transfer the pressure on the spine. External pressure may aggravate the distortions. Surgery is indicated when bone quality is acceptable and progressive scoliosis with 45 degrees of curvature. Posterior spinal arthrodesis is the treatment of choice.Signs of basilar invagination with copies may cause nerve and respiratory depression by direct compression of the brain. Treated by decompression and stabilization of the joint craniocervicale.
Physiotherapy:It is more effective in bone fragility due to lower postbifosfonati and good prognosis for walking and bipedal position. Strategies depend on age and coarse motor development and want to maximize functional independence. In childhood careful handling is recommended for children to prevent fractures, prevent positioning "frog legs" of the hips, the torticollis and occipital flattening. When you encourage your child begins to walk outpatient.
Prognosis:Nonortopedice causes of morbidity in type I and IV osteogenesis joint laxity, which causes chronic joint pain, deafness and brain compression. Child care often requires the type III progressive orthopedic deformities due. Bipedal walking and position are impossible because of spinal compression and scoliosis.Progressive thoracic deformities are associated with recurrent pneumonia patient's limited life expectancy. Life expectancy for all patients except those with type III is shortened. Type II is lethal prenatally.