Panicucci Chiara, Casalini Sara, Angelelli Alessia, Brolatti Noemi, Pedemonte Marina, Patti Giuseppa, Maghnie Mohamad, Bruno Claudio, Di Iorgi Natascia
Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Muscle Nerve. 2025 Feb;71(2):191-199. doi: 10.1002/mus.28309. Epub 2024 Dec 9.
INTRODUCTION/AIMS: Duchenne muscular dystrophy (DMD) is complicated by bone fragility. This study aimed to elucidate changes in bone mineral density (BMD) and body composition over time and to explore associations with adiposity measures in DMD.
A three-year follow-up analysis was performed of total body (TB) and lumbar spine (LS) dual-energy x-ray absorptiometry (DXA) measurements, anthropometric measures, Tanner stage and bone turnover biomarkers assessments, and the incidence of fragility fractures in 26 ambulant prepubertal DMD patients treated with deflazacort (DFZ).
Age at baseline was 7.7 years (interquartile range: 6-9.2). The TB BMD Z-score declined over time and was negatively related to the TB fat mass percentage and fat mass index (p < 0.05), but not to body mass index (BMI) standard deviation score (SDS). In contrast LS bone mineral apparent density (BMAD) Z-score remained stable and normal. The cumulative incidence of fragility fractures was 19.2%; DMD boys with fractures displayed a 1.5-fold higher decline of TB BMD Z-score/year (p < 0.05) and a worse adiposity profile compared to fracture-free patients. No difference was found in DFZ dose or duration between the two groups.
We observed a high incidence of fragility fractures, and identified fat tissue as a potential detrimental factor for bone health, suggesting a need for monitoring in DMD patients with excessive adiposity. Fat mass measures assessed by DXA could help to identify those at risk, enabling targeted interventions for better bone health. The co-occurrence of multiple glucocorticoid side effects might characterize patients at higher risk of fractures.
引言/目的：杜氏肌营养不良症（DMD）常伴有骨脆性增加。本研究旨在阐明骨密度（BMD）和身体成分随时间的变化情况，并探讨其与DMD患者肥胖指标之间的关联。
对26例接受地夫可特（DFZ）治疗的青春期前能行走的DMD患者进行了为期三年的随访分析，包括全身（TB）和腰椎（LS）双能X线吸收法（DXA）测量、人体测量、 Tanner分期和骨转换生物标志物评估，以及脆性骨折的发生率。
基线年龄为7.7岁（四分位间距：6 - 9.2岁）。全身骨密度Z评分随时间下降，且与全身脂肪质量百分比和脂肪质量指数呈负相关（p < 0.05），但与体重指数（BMI）标准差评分（SDS）无关。相比之下，腰椎骨矿物质表观密度（BMAD）Z评分保持稳定且正常。脆性骨折的累积发生率为19.2%；与未发生骨折的患者相比，发生骨折的DMD男孩全身骨密度Z评分每年下降幅度高1.5倍（p < 0.05），且肥胖情况更差。两组之间在DFZ剂量或疗程方面未发现差异。
我们观察到脆性骨折的发生率较高，并确定脂肪组织是影响骨骼健康的潜在有害因素，这表明需要对肥胖的DMD患者进行监测。通过DXA评估的脂肪质量测量有助于识别有风险的患者，从而能够进行有针对性的干预以改善骨骼健康。多种糖皮质激素副作用的共同出现可能是骨折风险较高患者的特征。
