Pathologie (Fach) / Muskuloskeletal (Lektion)
Inherited, diffuse bone disease that results in increased sclerotic appearance of the skeleton on radiological examination (from Latin: "petrosus" = stony).
Etiology:- Type I osteopetrosis (malignant osteopetrosis)→ Age of onset: infancy→ Clinical course: severe- Type II osteopetrosis (benign osteopetrosis, Albers-Schonberg disease)→ Age of onset: early adulthood→ Clinical course: mild
Pathophysiology: impaired osteoclastic resorption of bone with preserved osteoblastic function
Clinical features:- Pathological fractures- Cranial nerve disorders- Pancytopenia- Hepatosplenomegaly
Diagnostics:- X-ray: homogenous, marbled thickening of both cortical and trabecular bone- Laboratory findings: Hypocalcemia, ↑ tartrate-resistant acid phosphatase (TRAP)
Therapy: Bone marrow transplantation may be curative as osteoclasts are derived from monocytes.
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