Pluskiewicz W, Pyrkosz A, Drozdzowska B, Halaba Z
Department of Internal Diseases, Diabetology and Nephrology, Metabolic Bone Disease Unit, Silesian School of Medicine in Katowice, 3 Maja 13/15 str, 41-800 Zabrze, Poland.
Osteoporos Int. 2003 Oct;14(10):787-92. doi: 10.1007/s00198-003-1400-9. Epub 2003 Aug 29.
Skeletal status in subjects with genetic disorders rarely has been a matter of interest, and the risk for osteoporotic fracture in this population is not known. The aim of this study was to estimate ultrasound values in subjects with genetic disorders. In the study 50 patients (36 boys and 14 girls, mean age 11.8 +/- 2.9 years) and 528 healthy controls matched for age and body size (380 boys and 148 girls, mean age 11.9 +/- 2.5 years) were evaluated. Patients with the following disorders were included: Down syndrome, Martin-Bell syndrome, Marfan-Mass phenotype and others. Bone status was assessed by quantitative ultrasound (QUS) of hand phalanges using DBM Sonic 1200 (IGEA, Carpi, Italy), which measures amplitude-dependent speed of sound (Ad-SoS, m/s). Ad-SoS was significantly lower in patients than in controls (in the whole group 1,915 +/- 69 m/s vs. 1,970 +/- 62.0 m/s, P<0.0000001; in males 1,917 +/- 73 m/s vs. 1,972 +/- 63 m/s, P<0.000001; in females 1,910 +/- 58 m/s vs. 1,963 +/- 58 m/s, P<0.01). Ad-SoS correlated significantly with age and body size (except for Ad-SoS with age in female patients). In all subgroups of patients (except for the subjects with Marfan-Mass syndrome) Ad-SoS values were significantly lower than in controls. In a multiple, stepwise regression analysis of Ad-SoS on age and body size, in the whole group of patients age and height had significant influence on Ad-SoS, and in controls age, height and weight. In conclusion, the study shows significantly lower phalangeal ultrasound values in subjects with different genetic disorders compared to normal healthy persons.
患有遗传性疾病的受试者的骨骼状况很少受到关注，而且该人群骨质疏松性骨折的风险尚不清楚。本研究的目的是评估患有遗传性疾病的受试者的超声值。在该研究中，对50名患者（36名男孩和14名女孩，平均年龄11.8±2.9岁）和528名年龄和体型匹配的健康对照者（380名男孩和148名女孩，平均年龄11.9±2.5岁）进行了评估。纳入的患者患有以下疾病：唐氏综合征、马丁-贝尔综合征、马凡-马氏表型等。使用DBM Sonic 1200（意大利卡尔皮的IGEA公司）对手指骨进行定量超声（QUS）评估骨骼状况，该设备测量与振幅相关的声速（Ad-SoS，米/秒）。患者的Ad-SoS明显低于对照组（在整个组中，分别为1,915±69米/秒和1,970±62.0米/秒，P<0.0000001；男性分别为1,917±73米/秒和1,972±63米/秒，P<0.000001；女性分别为1,910±58米/秒和1,963±58米/秒，P<0.01）。Ad-SoS与年龄和体型显著相关（女性患者中Ad-SoS与年龄除外）。在所有患者亚组中（马凡-马氏综合征患者除外），Ad-SoS值均显著低于对照组。在对Ad-SoS关于年龄和体型的多元逐步回归分析中，在整个患者组中，年龄和身高对Ad-SoS有显著影响，而在对照组中，年龄、身高和体重有显著影响。总之，该研究表明，与正常健康人相比，患有不同遗传性疾病的受试者手指骨超声值明显更低。
