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