Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.
Objective and hypotheses: To raise awareness of OI, assert zolendronic acid (ZA) as an effective treatment; and provide ZA as an essential medicine, with consensus from IPS guidelines for Indonesia.
Method: IPS working with CLAN and RCH, undertook a 2 days community-building, information and education course for families of children with OI and for pediatricians. Approval was granted to treat children with OI using ZA every 46 months. ZA (0.05 mg/kg per dose) was administered to 15 patients (nine females), ages 0.918.2 years. Patients were observed for 24 h. Total calcium examination was performed after 2448 h.
Results: To date, 39 new patients with OI have been registered nationally; 14 patients have received one dose of ZA and one patient received two. Well recognized mild acute phase reactions occurred in the first 24 h after treatment, fever (5), fatigue (1), bone pain (1), and abdominal pain (1). Asymptomatic mild reduction in serum calcium was seen in eight.
Conclusion: Treatment has been successful to date, with minimal discomfort, as previously described. It is anticipated that ongoing OI community building and dissemination of patient information throughout Indonesia will raise public awareness and result in larger numbers of affected individuals seeking treatment, further improving quality of life and reducing morbidity. It is proposed ZA be included in the national list of essential medicines and covered by health insurance, resulting in general availability of ZA for OI treatment in Indonesia. Currently, ZA is already used for treating OI at RSCM.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology