Bone mineral density and metabolism in familial dysautonomia
Bone mineral density and metabolism in familial dysautonomia
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DOI：
10.1007/s001980200050
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发表时间：
2002-01-01
影响因子：
4
通讯作者：
Pollak, RD
中科院分区：
文献类型：
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作者：
Maayan, C;Bar-On, E;Pollak, RD
家族性自主神经功能障碍 (FD) 患者患有多发性骨折，并且骨痛减轻，从而推迟了诊断。 FD 骨脆性的发病机制尚不清楚。本研究旨在表征 FD 中的骨矿物质代谢和密度。研究对象为 79 名年龄在 8 个月至 48 岁之间的 FD 患者（平均年龄 13.9 +/- 10.4 岁，中位年龄 12.3 岁）。临床数据包括体重、身高、骨龄、每周体力活动和骨折史。通过双能 X 射线骨密度测定法测定腰椎 (n = 43)、股骨颈 (n = 26)、全髋 (n = 22) 和全身 (n = 15) 的骨矿物质密度 (BMD)。测定了 68 名患者以及年龄和性别匹配的对照者的血清 25-羟基维生素 D-3、骨钙素、骨碱性磷酸酶 (B-ALP)、甲状旁腺激素和尿 N-端肽交联 1 型胶原 (NTx)。 79 名患者中有 42 名 (53%) 发生 75 处骨折。 43 名患者中有 24 名的脊柱 Z 得分 < -2.0，26 名患者中有 13 名的股骨颈 Z 得分 < -2.0。与未发生骨折的患者相比，发生骨折的患者的平均股骨颈 BMD Z 评分较低（-2.5 +/- 0.9 vs -1.5 +/- 1.0 p = 0.01）。青春期前患者的平均体重指数 (BMI) 为 16 kg/m(2)，青春期后患者的平均体重指数 (BMI) 为 18.4 kg/m(2)。骨龄显着低于实际年龄（青春期前患者为 75.5 个月 vs 99.3 个月）。
Familial dysautonomia (FD) patients suffer from multiple fractures and have reduced bone pain, which defers the diagnosis. The pathogenesis of bone fragility in FD is unknown. This study aimed to characterize bone mineral metabolism and density in FD. Seventy-nine FD patients aged 8 months to 48 years (mean age 13.9 +/- 10.4 years, median 12.3) were studied. Clinical data included weight, height, bone age, weekly physical activity and history of fractures. Bone mineral density (BMD) of the lumbar spine (n = 43), femoral neck (n = 26), total hip (n = 22) and whole body (n = 15) were determined by dual-energy X-ray absorptiometry. Serum 25-hydroxyvitamin D-3, osteocalcin, bone alkaline phosphatase (B-ALP), parathyroid hormone and urinary N-telopeptide cross-linked type 1 collagen (NTx) were determined in 68 patients and age- and sex-matched controls. Forty-two of 79 patients (53%) sustained 75 fractures. Twenty-four of 43 patients had a spine Z-score < -2.0, and 13 of 26 had a femoral neck Z-score < -2.0. Mean femoral neck BMD Z-score was lower in patients with fractures compared with those without (-2.5 +/- 0.9 vs -1.5 +/- 1.0 p = 0.01). Mean body mass index (BMI) was 16 kg/m(2) in prepubertal patients and 18.4 kg/m(2) in postpubertal patients. Bone age was significantly lower than chronological age (75.5 vs 99.3 months in prepubertal patients. p