Osteogenesis Imperfecta

Posted by e-Medical PPT
Osteogenesis imperfecta is a genetic bone disorder.People with Osteogenesis imperfecta are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness.
Type I - Collagen is of normal quality but is produced in insufficient quantities:
* Bones fracture easily
* Slight spinal curvature
* Loose joints
* Poor muscle tone
* Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color
Type II - Collagen is not of a sufficient quality or quantity
* Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
Type III- Collagen improperly formed. Enough collagen is made but it is defective
* Bones fracture easily, sometimes even before birth
* Bone deformity, often severe
* Respiratory problems possible
* Short stature, spinal curvature and sometimes barrel-shaped rib cage
Type IV - Collagen quantity is sufficient but is not of a high enough quality
Type V - Same clinical features as Type IV
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.Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.


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