Osteogénesis imperfecta, presentación de un caso y revisión de terapias emergentes

Objective: To report a case of osteogenesis imperfecta (OI) type 1 and review the topic, with emphasis on emerging pharmacological therapeutic options. Clinical case: Female patient of 4 years of age with a family history in the paternal lineage of OI type 1. Product of third pregnancy, obtained by segmental cesarean at 37 weeks. Blue sclera were evident. She presented adequate height progression with discrete weight deficit, normal dentition and psychomotor development according to her age. At 16 months of age, after falling from her own height, she presented a fracture in the frontal cranial region, and at 2 years of age, a fracture in the left forearm. Subsequent evaluations showed mild deformity in genu valgus that did not limit walking. Biochemical analysis: serum calcium 9.2 mg/dL, phosphorus 5.2 mg/ dL, alkaline phosphatase 590 U/L, PTH 15.7 pg/mL. Bone densitometry reports a Z-score of 0.5 in lumbar spine and 1.5 in the whole body, compatible with adequate bone mass for chronological age. Bone age also according to her chronologicalage. Treatment with bisphosphonates (zoledronic acid 0.05 mg/kg in infusion, twice a year) was initiated, without new episodes of fractures. The Genetic Unit confirmed mutation in the COL1A1 gene compatible with osteogenesis imperfecta type I. Conclusion: Several emerging therapies are reported, some of them tested in experimental models, with promising results in the treatment of this disabling condition, demonstrating a significant decrease in the number of fractures, the pain perception and functionality in patients with OI.