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A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease.

作者信息

Iba Kousuke, Takada Junichi, Kamasaki Hotaka, Oda Takashi, Hatakeyama Naoko, Wada Takuro, Yamashita Toshihiko

机构信息

Department of Orthopaedic Surgery, Sapporo Medical University School of Medicine, South-1, West-16, Chuo-ku, Sapporo 060-8543, Japan.

出版信息

J Bone Miner Metab. 2008;26(1):107-9. doi: 10.1007/s00774-007-0783-7. Epub 2008 Jan 10.

DOI:10.1007/s00774-007-0783-7
PMID:18095072
Abstract
摘要

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Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia.卡穆拉蒂-恩格尔曼病：关于一种超罕见骨发育异常的病例回顾
Eur J Rheumatol. 2023 Jan;10(1):34-38. doi: 10.5152/eurjrheum.2023.21115.
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Aberrant activation of TGF-β1 induces high bone turnover Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease.异常激活的 TGF-β1 诱导 Camurati-Engelmann 病中 Rho GTPases 介导的细胞骨架重塑导致高骨转换。
Front Endocrinol (Lausanne). 2022 Oct 17;13:913979. doi: 10.3389/fendo.2022.913979. eCollection 2022.
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Improvement of Bone Health and Initiation of Puberty Development in Camurati-Engelmann Disease With Glucocorticoid and Losartan Treatment: A Case Report and Review of Literature.

本文引用的文献

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Medical management of Paget's disease of bone: indications for treatment and review of current therapies.骨佩吉特病的医学管理：治疗指征及当前疗法综述
J Bone Miner Res. 2006 Dec;21 Suppl 2:P94-8. doi: 10.1359/jbmr.06s218.
2
Osteoclasts play a part in pain due to the inflammation adjacent to bone.破骨细胞在因邻近骨骼的炎症而产生的疼痛中起作用。
Bone. 2006 Nov;39(5):1107-1115. doi: 10.1016/j.bone.2006.04.033.
3
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.一个摩洛哥家庭中的卡穆拉蒂-恩格尔曼病（进行性骨干发育异常）
糖皮质激素和氯沙坦治疗 Camurati-Engelmann 病：改善骨骼健康和启动青春期发育：病例报告及文献复习。
Front Endocrinol (Lausanne). 2022 Jun 17;13:882144. doi: 10.3389/fendo.2022.882144. eCollection 2022.
4
Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates.卡姆拉蒂-恩格尔曼病合并垂体功能减退症：管理挑战及双膦酸盐治疗结局的文献综述
AACE Clin Case Rep. 2021 Oct 20;8(2):58-64. doi: 10.1016/j.aace.2021.10.002. eCollection 2022 Mar-Apr.
5
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.三个无关的患有卡穆拉蒂-恩格尔曼病的中国家庭中一种新型TGFB1变体的临床特征与鉴定
Mol Genet Genomic Med. 2022 May;10(5):e1922. doi: 10.1002/mgg3.1922. Epub 2022 Mar 21.
6
Significant Improvement After Surgery for a Symptomatic Osteoblastoma in a Patient with Camurati-Engelmann Disease: Case Report and Literature Review.Camurati-Engelmann 病患者症状性骨母细胞瘤手术后显著改善：病例报告及文献复习。
Calcif Tissue Int. 2021 Jun;108(6):819-824. doi: 10.1007/s00223-021-00813-8. Epub 2021 Feb 8.
7
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease.长期唑来膦酸治疗重症卡穆拉蒂-恩格尔曼病患者后临床症状、骨病变及骨转换的显著改善
Mol Syndromol. 2017 Nov;8(6):294-302. doi: 10.1159/000479859. Epub 2017 Sep 9.
8
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BMJ Case Rep. 2017 Nov 28;2017:bcr-2017-221760. doi: 10.1136/bcr-2017-221760.
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J Bone Miner Res. 2011 May;26(5):920-33. doi: 10.1002/jbmr.283.
Osteoporos Int. 2005 Sep;16(9):1167-70. doi: 10.1007/s00198-005-1896-2. Epub 2005 Jun 16.
4
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.卡姆拉蒂-恩格尔曼病：24个家族的临床、放射学及分子数据回顾以及对诊断和治疗的意义
J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13.
5
Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases.
Clin Rheumatol. 2005 Aug;24(4):398-401. doi: 10.1007/s10067-004-1056-7. Epub 2005 Jan 20.
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Clin Nucl Med. 2001 Aug;26(8):680-2. doi: 10.1097/00003072-200108000-00003.
7
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.转化生长因子β1（TGFB1）中的特定结构域突变会导致卡姆拉蒂-恩格尔曼病。
Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128.
8
Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease).
Clin Exp Rheumatol. 1999 Mar-Apr;17(2):264.
9
Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family.卡姆拉蒂-恩格尔曼病骨转换的生化标志物：一个家族中4例病例报告
Calcif Tissue Int. 1997 Jul;61(1):48-51. doi: 10.1007/s002239900293.
10
Correlation between bone imaging and the clinical picture in two unsuspected cases of progressive diaphyseal dysplasia (Engelmann's disease).
Clin Nucl Med. 1993 Apr;18(4):324-8. doi: 10.1097/00003072-199304000-00012.