Home Osteopetrosis: Autosomal dominant (Albers-Schonberg) (ARO)

Osteopetrosis: Autosomal dominant (Albers-Schonberg) (ARO)

Types

Defining Characteristics

Spine sclerosis with sandwich vertebrae (rugger jersey spine), variable penetrance/ severity

Disease Development

Mutation in TC1RG1 causes inability of osteoclast to secrete hydrogen ions into the bone matrix, thereby decreasing bone resorption

Epidemiology

Late childhood/ adolescence onset

Lab/Imaging

XR? Rugger jersey spine

Complications

Fractures, osteomyelitis, possible nerve compression