hrp0089p3-p056 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta

Selveindran Nalini M , Hong Janet YH , Nawawi Nadiah Mohd , Murad Nor Azian Abdul , Jamal Rahman , Latiff Zarina Abdul , Aziz Bilkis Banu Abd , Zakaria Syed Zulkifli Syed , Zain Fuziah Md , Rasat Rahmah

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...