Caudevilla Lafuente Pilar, de Arriba Muñoz Antonio, Izquierdo Álvarez Silvia, Ferrer Lozano Marta, Medrano San Ildefonso Marta, Labarta Aizpún José Ignacio
Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
Med Clin (Barc). 2020 Jun 26;154(12):512-518. doi: 10.1016/j.medcli.2019.12.025. Epub 2020 Mar 10.
Osteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures.
Retrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI.
Forty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures.
The COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life.
成骨不全症（OI）是一种异质性遗传病，表现为骨骼脆弱和骨折。
回顾性描述性研究，分析成骨不全症患者的临床和遗传特征以及治疗情况。
纳入40例患者；男性占32.5%，女性占67.5%；儿童29例，成人11例。轻度成骨不全症患者诊断时的骨折次数为4.6±6.4次（诊断时平均年龄7.8±12.8岁），中度成骨不全症患者为1.7±2.4次（诊断时年龄0.04±0.3岁），重度成骨不全症患者为3.7±2.1次，极重度成骨不全症患者为12.5±7.8次，两组均在出生时确诊。对32例患者进行了基因研究，其中25例基因研究呈阳性（存在致病/可能致病变异）。COL1A1基因是最常受影响的基因。7例患者未发现致病或可能致病变异（5例通过I型胶原生化研究确诊）。19例患者接受了双膦酸盐治疗；7例联合生长激素治疗。接受双膦酸盐治疗的患者临床症状改善（骨痛和/或易激惹症状减轻），骨折次数减少。
COL1A1基因是最常受影响的基因。成骨不全症患者应接受多学科管理，双膦酸盐可改善其生活质量。
