Research paper on OSTEOPETROSIS Example | Topics and Well Written Essays - 500 words

On OSTEOPETROSIS - Research Paper Example Mortality associated with infantile osteopetrosis is high. Those with adult osteopetrosis have longterm survival chances. In this research essay, the pathophysiology, clinical presentation, investigations, treatment and prevention will be discussed. Purpose The main purpose of the paper is to present an overview of osteopetrosis. Pathophysiology The main defect in osteopetrosis is in osteoclast which belongs to monocyte-macrophage lineage and genetic defects leads to abnormal osteoclasts (Tolar et al, 2004). Osteoclasts are very important in the modelling and remodeling of the tissue of the bone and defective osteoclasts fail to model and remodel the bone appropriately, resulting in abnormal encroachment and deposition of bone tissue (Teitelbaum, 2000). The abnormal bone tissue is susceptible to fractures and can encroach into the bone marrow leading to bone marrow failure. it can also encroach around the nerves causing nerve entrapment syndrome. When blood vessels are affected, isch emia, especially of the bones like mandible can occur. Eventually, the patient develops multiple fractures, anemia, bleeding disorders and sepsis (Bhargava, and Griffing, 2009). Clinical presentation The clinical presentation depends on the type of osteopetrosis.