Osteogenesis Imperfecta: The cause, treatment and prognosis
Osteogenesis Imperfecta is a genetic disorder that causes the bones to break easily. It is sometimes called brittle bone disease. Osteogenesis Imperfecta is a hereditary disorder that is autosomal dominant meaning only one copy of the gene is needed for the disease to be passed on. Couples in which one partner has the disorder would have a fifty percent chance of having a child with the disorder. Ostogenesis Imperfecta is estimated to affect approximately twenty to fifty thousand people in the United States.
Osteogenesis Imperfecta has four subtypes which vary greatly in severity. Type one is considered mild although fractures can still occur with only minor trauma. The amount of fractures that occur in type one tends to decrease after adolescence. Type two is the most severe form of the disease with fractures sometime occurring in utero. Type two is almost always fatal by age one. Most children born with type two osteogenesis imperfecta come from families with no history of the disease. Children with Type three osteogenesis imperfect have multiple and severe fractures but generally can live a near normal life span. Type four falls between type one and type three in severity. The vast majority of osteogenesis imperfect disorders are caused by a mutation in the COL1A1 and COL1A2 genes responsible for providing the instructions to the cells that make collagen. Type two is caused by a different recessive gene mutation.
The symptoms of osteogenesis imperfect are primarily fractures with a suspicious history of little or no trauma to account for them. This trait can unfortunately lead to difficulties with child protection services and the medical community if the disease has been mild enough to not be diagnosed at birth. Other symptoms include a blue tinge to the sclera of the eye, and poor teeth. Hearing loss can develop beginning in the teen years and progressing into adulthood. The ligaments of the joints may also be affected and cause “loose joints” increasing the risk of injury.
Treatment revolves around preventing and treating fractures and pain control. Surgical interventions using rods to stabilize the long bones of the legs and arms are sometimes used. A diet high in calcium and regular but non-forceful exercise such as swimming is recommended to maintain muscle strength and help prevent bone loss. Maintaining normal weight is also important to prevent stress on the skeleton. Some medications such as biphosphanats and calcium supplements are used with some success. In at least one case a bone marrow transplant was used as treatment in a baby girl with the disease. Studies are being done to follow her progress but no conclusions have yet been made.
Osteogenesis imperfect is a difficult disease for both child and parent. In the milder cases there is a normal life expectancy. The disease having made its suffers face difficult problems early, often also develops in them an unusual determination and will to succeed in life.
Sources:
<http://www.encyclopedia.com/doc/1G1-133751272.html>
<http://www.csmc.edu/9921.html>
<http://orthopedics.about.com/cs/pediatricsurgery/a/oi.htm>
http://www.medic8.com/genetics/osteogenesis-imperfecta.htm
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