Kohlmeier L, Gasner C, Bachrach L K, Marcus R
Musculoskeletal Research Laboratory, GRECC, VA Medical Center, Palo Alto, California, USA.
J Bone Miner Res. 1995 Oct;10(10):1550-5. doi: 10.1002/jbmr.5650101017.
Osteopenia at the hip and low total body calcium content have been reported in women with Marfan syndrome. Using dual X-ray absorptiometry (DXA), we evaluated the lumbar spine L2-L4 and proximal femur bone mineral density (BMD,/cm2) in 32 women and 16 children with Marfan syndrome. The women were 38 +/- 10 (SD) years old (23-58 years); their mean height was 178.7 +/- 8 cm. The children (9 boys and girls were 9.9-17.5 years old. Children were tall for their ages but of normal weight. All subjects were moderately active, without previous nontraumatic fracture. In the women, BMD was reduced at L2-L4, femoral neck (fnk), trochanter (tr), and intertrochanter (intr) (p < 0.0001-0.006), compared with age-predicted values. Z scores for L2-L4 and for the fnk, tr, and intr, were -0.59 +/- 1.06,-1.25 +/- 0.99,-1.03 +/- 0.91, respectively. The average hip axis length (HAL) of 11.5 +/- 0.093 cm was at the 80th percentile for women. No significant change was observed in 1 year follow-up BMD measurements in 13 women (fnk = -0.23 +/- 2.3%/year; L2-L4 = -0.43 +/- 1.57%/year). In Marfan children, BMD correlated with age, height, and pubertal development. Femoral neck BMG was reduced (Z = -0.74 +/- 1.22,p < 0.05) with a nonsignificant trend toward decreased BMD at L2-L4 (Z = 33 +/- 1.48). Resorption markers in Marfan women were normal and did not correlate with bone status. We conclude that women with Marfan syndrome have both axial and peripheral osteopenia as well as an increased HAL. This combination of findings likely increases substantially their long-term risk for hip fracture. Presence of osteopenia in Marfan children indicates that the skeletal deficits of Marfan syndrome may reflect inadequate bone acquisition.
据报道，患有马凡综合征的女性存在髋部骨质减少和全身总钙含量降低的情况。我们使用双能X线吸收法（DXA）对32名患有马凡综合征的女性和16名儿童的腰椎L2 - L4及股骨近端骨密度（BMD，g/cm²）进行了评估。这些女性的年龄为38±10（标准差）岁（23 - 58岁）；平均身高为178.7±8厘米。儿童（9名男孩和7名女孩）年龄在9.9 - 17.5岁之间。这些儿童年龄较大但体重正常。所有受试者活动量适中，既往无非创伤性骨折史。在女性中，与年龄预测值相比，L2 - L4、股骨颈（fnk）、大转子（tr）和转子间（intr）的骨密度均降低（p < 0.0001 - 0.006）。L2 - L4以及fnk、tr和intr的Z值分别为 - 0.59±1.06、 - 1.25±0.99、 - 1.03±0.91。11名女性的平均髋轴长度（HAL）为11.5±0.093厘米，处于第80百分位。在对13名女性进行的为期1年的骨密度随访测量中未观察到显著变化（fnk = - 0.23±2.3%/年；L2 - L4 = - 0.43±1.57%/年）。在患有马凡综合征的儿童中，骨密度与年龄、身高和青春期发育相关。股骨颈骨密度降低（Z = - 0.74±1.22，p < 0.05），L2 - L4骨密度有降低趋势但不显著（Z = - 0.33±1.48）。患有马凡综合征的女性的骨吸收标志物正常，且与骨状态无关。我们得出结论，患有马凡综合征的女性存在轴向和外周骨质减少以及髋轴长度增加的情况。这些发现的组合可能会大幅增加她们长期发生髋部骨折的风险。患有马凡综合征的儿童存在骨质减少表明马凡综合征的骨骼缺陷可能反映了骨量获取不足。
