A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease
A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease
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DOI：
10.1007/s00774-007-0783-7
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发表时间：
2008-01-01
影响因子：
3.3
通讯作者：
Yamashita, Toshihiko
中科院分区：
文献类型：
--
作者：
Iba, Kousuke;Takada, Junichi;Yamashita, Toshihiko
卡穆拉蒂-恩格尔曼病，也称为进行性骨干发育不良，是一种罕见的骨硬化性骨发育不良，其特征是长骨骨干的骨内膜和骨膜增厚。最常见的症状是四肢严重、双侧、对称性骨痛、步态蹒跚、肌肉无力、易疲劳[1, 2]。 Camurati-Engelmann 病以常染色体显性方式遗传，染色体区域 19q13 的转化生长因子-β1 (TGF-β1) 基因序列发生改变。 1已被发现与该疾病有关[3]。放射学上，在长骨的骨干和干骺端观察到对称性骨硬化[4]，骨闪烁扫描显示受影响区域的放射性显着增加[5]。这些放射学检查结果对疾病范围和活动性提供了有意义的评估。之前的一些报告表明，骨转换的生化标志物有助于评估卡穆拉蒂-恩格尔曼病的疾病活动性[6]。关于卡穆拉蒂-恩格尔曼病的治疗，据报道皮质类固醇在某些情况下可有效减轻症状[7]，而在之前的报告中没有关于皮质类固醇对疾病活动的有效性的明确数据[8]。最近，一些报道表明，由于双磷酸盐治疗佩吉特病的经验，双磷酸盐已被用于卡穆拉蒂-恩格尔曼病的治疗。然而，大多数研究表明双磷酸盐治疗对卡穆拉蒂-恩格尔曼病无效[8-10]。在这项研究中，尝试用阿仑膦酸钠治疗两例卡穆拉蒂-恩格尔曼病。该药物显着改善了骨痛，并且 I 型胶原交联 N 端肽（NTX）（骨吸收标志物）的相关减少。
Camurati–Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare osteosclerotic dysplasia of bone that is characterized by endosteal and periosteal thickening of the diaphysis of the long bones. The most common symptoms are severe, bilateral, and symmetrical bone pain in the limbs, waddling gait, muscle weakness, and easy fatigability [1, 2]. Camurati–Engelmann disease is inherited in an autosomic dominant manner, and alterations in the sequence in the transforming growth factor-β1 (TGF-β1) gene in the chromosomal region 19q13. 1 have been found to be associated with the disorder [3]. Radiographically, symmetrical osteosclerosis is observed in the diaphyses and metaphyses of the long bones [4], and bone scintigraphy reveals a marked increase in radioactivity at the affected regions [5]. These radiologic findings provide a meaningful assessment of disease extent and activity. A few previous reports showed that biochemical markers of bone turnover were useful to evaluate the disease activity of Camurati–Engelmann disease [6]. Concerning the treatment of Camurati–Engelmann disease, corticosteroids have been reported to be effective in reducing the symptoms in some cases [7], whereas there were no definitive data on the effectiveness of corticosteroids on disease activity in a previous report [8]. Recently, several reports showed that bisphosphonates have been used in Camurati–Engelmann disease because of the experience of treatment with these drugs in Paget’s disease. However, most of the studies indicated that the administration of bisphosphonates was ineffective for treating Camurati–Engelmann disease [8–10]. In this study, treatment of two cases of Camurati–Engelmann disease was attempted with alendronate. The drug markedly improved bone pain, and a correlative decrease in cross-linked N-telopeptides of type I collagen (NTX), a bone resorption marker, was noted.