Intractable Rare Dis Res. 2024;13(4):236-244. (DOI: 10.5582/irdr.2024.01033)

Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital

Alayza A, Matos P, Abarca H

Osteogenesis imperfecta (OI) is a genetic disorder of the connective tissue that is characterized by high bone fragility. It has a worldwide incidence of 1 in 10,000. The diagnosis is mainly clinical-radiological. Treatment is based on the use of bisphosphonates and orthopedic surgeries. The objective of this study was to establish the clinical, radiological, and therapeutic characteristics of OI in pediatric patients of a national reference pediatrics institute. This was conducted through a descriptive and retrospective analysis. All patients under 18 years of age with a diagnosis of OI treated at the Instituto Nacional de Salud del Niño de Breña (INSN-Breña) between 2010 and 2021 were included. In total, 91 patients with OI were studied, more than half of whom were male. A total of 93.4% had a history of fractures, 72.5% had blue sclera, 39.6% had bowed legs and 20.9% had dentinogenesis imperfecta. The minimum-maximum value of fractures was 0-18. A total of 75.8% of patients started treatment with bisphosphonates and 41.8% used adjuvant medications. Less than 50% of patients required surgical treatment. Osteogenesis imperfecta is a genetic and chronic pathology. The use of the Van Dijk severity grade and the Aglan severity scale is simple to apply and therefore should be used to improve the classification of groups with the highest risk of fractures and response to treatment. Due to the low incidence of this disease, it is important to raise awareness and increase the research volume on this subject.

Full Text: