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Osteopetrosis: Pathophysiology, Symptom, and Treatment Options

- Describe the symptoms of that disease;
- Explain the imbalance on the molecular, cellular and tissue levels;
- Describe the current treatments and prognoses of those treatments;

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Background on bone formation:

Cellular level:

Osteoblasts: cells responsible for creating new bone. Immature cells that lay down a protein mixture called 'osteoid' (matrix) which mineralizes to become bone. They also produce hormones, such as alkaline phosphatase, which is involved in mineralization. Osteoblasts become osteocytes once trapped in bone matrix.

Osteoclasts: cells responsible for breaking down bone through a phagocytic-like process. The cells acidify the resorption pit, leading to digestion of bone. (Further info related to osteopetrosis below)

Normal bone growth involves a balance between osteoblast and osteoclast function.

Molecular level:

Most bone is formed from bone matrix which is made up of hydroxyapatite and collagen. The matrix is produced as unmineralized osteoid from osteoblasts. Osteoblasts then secrete vesicles with alkaline phosphatase which cleaves phosphate groups which becomes a location for calcium and phosphates deposits. The ...

Solution Summary

This solution discusses the pathophysiology, symptoms, and treatment options for Osteopetrosis.