Endocrinology and Metabolic Diseases Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Osteoporos Int. 2017 Apr;28(4):1385-1392. doi: 10.1007/s00198-016-3883-1. Epub 2016 Dec 23.
Bone status impairment represents a complication of generalized forms of epidermolysis bullosa (EB); however, the prevalence and the main determinants of this event in localized forms remain poorly defined. Birmingham epidermolysis bullosa severity (BEBS) score and 25-hydroxyvitamin D levels are strongly associated with low bone mass, suggesting that vitamin D may play a potential beneficial role in bone health. Further longitudinal studies are needed in order to confirm this hypothesis.
Bone status impairment represents a complication of generalized forms of EB; thus, we aimed to estimate the prevalence of low bone mass, to examine mineralization differences in various EB subtypes and to identify the most important determinants of bone impairment in children with either generalized or localized EB.
An observational study of 20 children (11 males; mean age ± standard deviation, 11.7 ± 3.9 years) with EB was performed. Clinical history, physical examination, laboratory studies, X-ray of the left hand and wrist for bone age, and dual energy X-ray absorptiometry scans of the lumbar spine were obtained. Areal bone mineral density (aBMD Z-scores) and bone mineral apparent density were related to the BEBS score.
Areal BMD Z-score (mean -1.82 ± 2.33, range, -7.6-1.7) was reduced (<-2 SD) in 8 patients (40%), whereas aBMD Z-score adjusted for bone age was low in 7 patients (35%). BEBS score and 25-hydroxyvitamin D serum levels were the most important elements associated with aBMD (P = 0.0001 and P = 0.016, respectively). A significant correlation between the aBMD Z-score and area of skin damage, insulin-like growth factor-1, C-reactive protein, and sodium serum levels was also found.
Low aBMD can be considered a systemic complication of EB, primarily associated with BEBS score and 25-hydroxyvitamin D levels. Therefore, longitudinal evaluation of bone status is ongoing in these patients to define whether vitamin D supplementation would prevent, or at least reduce, bone status impairment.
骨量减少是大疱性表皮松解症（EB）全身性形式的一种并发症；因此，我们旨在评估低骨量的发生率，检查各种 EB 亚型的矿化差异，并确定儿童全身性或局限性 EB 骨损伤的最重要决定因素。
对 20 例 EB 患儿（男 11 例；平均年龄 ± 标准差，11.7 ± 3.9 岁）进行了一项观察性研究。采集了临床病史、体格检查、实验室研究、左手和腕关节 X 线骨龄、腰椎双能 X 线吸收仪扫描。面积骨矿物质密度（aBMD Z 评分）和骨矿物质表观密度与 BEBS 评分相关。
8 例（40%）患儿的面积 BMD Z 评分（均值-1.82 ± 2.33，范围-7.6～1.7）降低（＜-2 SD），7 例（35%）患儿的校正骨龄的 aBMD Z 评分降低。BEBS 评分和 25-羟维生素 D 血清水平是与 aBMD 最相关的重要因素（P = 0.0001 和 P = 0.016）。还发现 aBMD Z 评分与皮肤损伤面积、胰岛素样生长因子-1、C 反应蛋白和血清钠水平之间存在显著相关性。
低 aBMD 可被视为 EB 的一种系统性并发症，主要与 BEBS 评分和 25-羟维生素 D 水平相关。因此，正在对这些患者进行骨量状况的纵向评估，以确定维生素 D 补充是否可以预防或至少减轻骨量状况的损害。
Zotero 插件