Barbato Antonio, Vergatti Anita, Giaquinto Alfonso, Pizzulo Ilaria Libera, Perna Ludovica, Perruolo Giuseppe, Abate Veronica, Sibilio Michelina, Mainolfi Ciro, Soscia Ernesto, De Filippo Gianpaolo, Formisano Pietro, Galletti Ferruccio, Strazzullo Pasquale, Rendina Domenico
Department of Clinical Medicine and Surgery, Federico II University of Naples, 80131 Naples, Italy.
Department of Translational Medical Sciences, Federico II University of Naples, 80131 Naples, Italy.
JBMR Plus. 2024 May 27;8(8):ziae071. doi: 10.1093/jbmrpl/ziae071. eCollection 2024 Aug.
Skeletal anomalies represent a characteristic feature of type 1 Gaucher disease (GD1). Here we evaluated the impact of an integrated therapy comprising enzyme-replacement therapy (ERT), cholecalciferol, and a normocalcemic-normocaloric-hyposodic diet (bone diet) on bone health in GD1 patients. We also performed a systematic review to compare our results with available data. From January 1, 2015 to February 28, 2019, all GD1 patients referred to Federico II University were enrolled and treated with the integrated therapy. Bone turnover markers and bone mineral density (BMD) were evaluated at baseline (T0) and after 24 months (T24). We enrolled 25 GD1 patients, all showing 25-hydroxy vitamin D (25OHD) levels < 50 nmol/l (hypovitaminosis D) at T0. Response to cholecalciferol treatment was effective, showing a direct relationship between 25OHD levels before and after treatment. At T0, 2 GD1 patients showed fragility fractures, 5 the Erlenmeyer flask deformity, 3 osteonecrosis, and 7 a BMD -score ≤ -2. Overall, GD1 patients with bone anomalies showed higher C-terminal telopeptide levels compared with those without bone anomalies. No new bone anomalies occurred during 2 years of follow-up. At T24, BMD remained stable across the entire study cohort, including in patients with bone anomalies. The systematic review showed that our study is the first that evaluated all bone health parameters. Hypovitaminosis D is prevalent in GD1 patients. The response to cholecalciferol treatment was effective but different to healthy subjects and in patients with metabolic bone disorders. Integrated therapy including ERT, cholecalciferol, and bone diet guarantees bone health.
骨骼异常是1型戈谢病（GD1）的一个特征性表现。在此，我们评估了一种综合治疗方案，包括酶替代疗法（ERT）、胆钙化醇和正常钙、正常热量、低钠饮食（骨骼饮食）对GD1患者骨骼健康的影响。我们还进行了一项系统评价，以将我们的结果与现有数据进行比较。2015年1月1日至2019年2月28日，所有转诊至费德里科二世大学的GD1患者均入组并接受综合治疗。在基线（T0）和24个月后（T24）评估骨转换标志物和骨密度（BMD）。我们纳入了25例GD1患者，所有患者在T0时25-羟维生素D（25OHD）水平均<50 nmol/l（维生素D缺乏）。对胆钙化醇治疗的反应有效，治疗前后25OHD水平呈直接相关。在T0时，2例GD1患者出现脆性骨折，5例出现烧瓶样畸形，3例出现骨坏死，7例BMD评分≤ -2。总体而言，有骨骼异常的GD1患者与无骨骼异常的患者相比，C端骨肽水平更高。在2年的随访期间未出现新的骨骼异常。在T24时，整个研究队列的BMD保持稳定，包括有骨骼异常的患者。系统评价表明，我们的研究是首个评估所有骨骼健康参数的研究。维生素D缺乏在GD1患者中普遍存在。对胆钙化醇治疗的反应有效，但与健康受试者和代谢性骨病患者不同。包括ERT、胆钙化醇和骨骼饮食在内的综合治疗可保障骨骼健康。
