OSTEOPOROSIS AND INCREASED BONE-FRACTURES IN CEREBROTENDINOUS XANTHOMATOSIS
OSTEOPOROSIS AND INCREASED BONE-FRACTURES IN CEREBROTENDINOUS XANTHOMATOSIS
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DOI：
10.1016/0026-0495(93)90174-m
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发表时间：
1993-01-01
影响因子：
9.8
通讯作者：
GAZIT, D
中科院分区：
文献类型：
--
作者：
BERGINER, VM;SHANY, S;GAZIT, D
本文报告15例平均年龄31 ± 11岁的腱性黄瘤病（CTX）患者，经骨骼X线摄片和骨密度测定发现明显的骨质疏松。在三名CTX患者中，骨活检证实了骨质疏松症。9名患者在轻微创伤后也持续骨折。血清25-羟维生素D（[25-OHD] 14.6 ± 6.6 ng/mLv[正常] 30.4 ± 8.0 ng/mL;P< .001）和24，25-二羟维生素D（[24，25（OH）2D] 1.2 ± 0.4 ng/mLv[正常] 2.7 ± 0.8 ng/mL;P< .001）和24，25-二羟维生素D（[24，25（OH）2D] 1.2 ± 0.4 ng/mLv[正常] 2.7 ± 0.8 ng/mL;P< .001）水平较低。血清1，25（OH）2D、钙、无机磷、碱性磷酸酶、甲状旁腺激素和降钙素浓度正常。患者表现出典型的CTX表现，包括痴呆、锥体和小脑功能不全、周围神经病变、白内障和与血清胆固醇浓度升高相关的肌腱黄色瘤。这些结果表明，广泛的骨质疏松症和骨折的风险增加是这种遗传性疾病的组成部分。
Significant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 ± 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following minimal trauma. Serum 25-hydroxyvitamin D ([25-OHD] 14.6 ± 6.6 ng/mLv[normal] 30.4 ± 8.0 ng/mL;P< .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mLv[normal] 2.7 ± 0.8 ng/mL;P< .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mLv[normal] 2.7 ± 0.8 ng/mL;P< .001) levels were low. Serum concentrations of 1,25(OH)2D, calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone, and calcitonin were normal. Patients showed classic manifestations of CTX, including dementia, pyramidal and cerebellar insufficiency, peripheral neuropathy, cataracts, and tendon xanthomas associated with elevated serum cholestanol concentrations. These results demonstrate that extensive osteoporosis and increased risk of bone fractures are components of this inherited disease.