Osteoclast-Derived Serum Tartrate-Resistant Acid Phosphatase 5b in Albers-Schonberg Disease (Type II Autosomal Dominant Osteopetrosis)

Abstract

The results indicate that in ADO2, serum TRACP 5b reflects the number of osteoclasts and that the extremely high serum TRACP 5b activity is a specific indicator of the disease. Similar to total TRACP, TRACP 5b appears to be a potentially useful marker to stratify individuals with ClCN7 gene mutations into clinically affected and unaffected gene carriers. It may also have a prognostic value in the prediction of fractures in patients with a ClCN7 gene mutation.