Home Osteopetrosis: Autosomal recessive infantile malignant (ARO)

Osteopetrosis: Autosomal recessive infantile malignant (ARO)

Types

Defining Characteristics

Dense, brittle bone that fractures, bleeding/infections, hypersplenism, hemolytic anemia
Count osteoclasts – RANKL mutation (low OC #) v. TC1RG1/ ClCN7 (nl OC #)

Disease Development

Mutation in RANKL (rare) or ion pumps (TC1RG1, ClCN7) causes defective bone resorption and apoptosis of osteoclasts

Potential Causes

Bone overgrowth due to loss of osteoclast resorptive fx

Epidemiology

Infancy

Risk factors

Osteoclast number, anemia labs

Lab/Imaging

Bone marrow transplantation

Conventional Treatment

Cranial nerve compression –> blindness, deafness
Death by 10y.o. if not treated