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首页> 外文期刊>Indian Journal of Nuclear Medicine >Camurati-Engelmann disease with good treatment response to Losartan
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Camurati-Engelmann disease with good treatment response to Losartan

机译：Camurati-Engelmann病对洛沙坦的治疗效果良好

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Camurati–Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant inherited condition which belongs to the group of craniotubular hyperostosis. A 24-year-old man presented with insidious onset, progressive pain over both legs, and forearms for 3 years. He was born as the second child of a nonconsanguineous union by vaginal delivery at term without any complications. The clinical, radiological, and histopathological features were suggestive of CED. Transforming growth factor-β1 sequence analysis revealed a missense mutation (c.652CT; p. Arg218Cys) confirming the diagnosis. He had a good response to treatment with Losartan. CED should be considered in the differential diagnosis of patients presenting with nonspecific limb pains and radiological features of skeletal dysplasia. Early recognition and diagnosis play a crucial role in management. This case discuss regarding the potential benefits of the drug losartan in the management of a rare bone disease for which the evidence from previous literature is scarce.
机译：Camurati-Engelmann病（CED）或进行性骨干发育不良是一种罕见的常染色体显性遗传疾病，属于颅管肥大症。一名24岁的男子出现隐匿性发作，双腿和前臂渐进疼痛3年。他足月通过阴道分娩出生为无血缘结合的第二胎，没有任何并发​​症。临床，放射学和组织病理学特征提示CED。转化生长因子-β1序列分析显示错义突变（c.652C> T; p。Arg218Cys）证实了诊断。他对氯沙坦的治疗反应良好。在表现出非特异性肢体疼痛和骨骼发育异常的影像学特征的患者的鉴别诊断中，应考虑使用CED。早期识别和诊断在管理中起着至关重要的作用。本案例讨论了氯沙坦在治疗罕见骨病中的潜在益处，而以前文献中的证据很少。

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