OSTEOGENESIS IMPERFECTA IN CHILDREN IN THE RUSSIAN FEDERATION: RESULTS OF THE FEDERAL REGISTRY AUDIT

Abstract

Background: Development and maintenance of registries of patients with rare diseases helps to determine the prevalence thereof, assess quality of medical care rendering, develop possible ways of optimizing patient management and calculate the necessary budget.Objective: Our aim was to study validity of including pediatric patients to the federal osteogenesis imperfecta registry and to determine disease characteristics, current or previous treatment.Methods: We conducted a retrospective study of the data on patients with ost eogenesis imperfecta included in the federal registry of the Ministry of Health of Russia. We provide results of the first registry audit. We analyzed the clinical and laboratory data provided in the medical documentation.Results: Validity of inclusion of patients with osteogenesis imperfecta in the registry was confirmed for 323 (96.4%) patients out of 335. In most cases (> 90%), bone fractures take place at the age of 6 months or later. Conclusion: It is reasonable to develop an electronic individual record form for patients with osteogenesis imperfecta for long-term monitoring of health condition and the conducted treatment.

Keywords

• children
• osteogenesis imperfecta
• bone fractures
• registry
• incapacitation