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成功实施全髋关节置换术治疗常染色体显性遗传性骨硬化症合并髋骨关节炎:一例病例报告及文献综述

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature.

作者信息

Gao Xiaoming, Cheng Qian, Zhang Xiaofei, Zhao Guoyang

机构信息

Department of Orthopedics, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 212000, P.R. China.

Department of Orthopedics, Tong Ren Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200336, P.R. China.

出版信息

Exp Ther Med. 2020 Apr;19(4):2702-2706. doi: 10.3892/etm.2020.8503. Epub 2020 Feb 10.

DOI:10.3892/etm.2020.8503
PMID:32256752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7086189/
Abstract

Osteopetrosis is a rare congenital bone disorder, characterized by systemic osteosclerosis due to a deficiency of or functional defect in osteoclasts. Autosomal dominant osteopetrosis (ADOP) is the most common form with a late onset, a stable condition, relatively few symptoms and a good prognosis. Few studies to date have reported successful total hip arthroplasty (THA) in patients with ADOP and its operative difficulties. We herein describe a case of left hip osteoarthritis in a patient with OP via THA in order to share our experience during the treatment process. The patient was a 52-years-old female with osteopetrosis who was referred to our department due to a history of left hip pain with activity limitation for 20 years. The patient reported no history of fracture or family history. The patient underwent THA in the left hip. At the 6-month, 1- and 2-year follow-up, the components were in a good position and the patient remained asymptomatic and pain-free. Therefore, THA may be a feasible treatment option when patients with ADOP suffer from painful hip osteoarthritis.

摘要

骨硬化症是一种罕见的先天性骨疾病,其特征是由于破骨细胞缺乏或功能缺陷导致全身性骨硬化。常染色体显性遗传性骨硬化症(ADOP)是最常见的类型,起病较晚,病情稳定,症状相对较少,预后良好。迄今为止,很少有研究报道ADOP患者成功进行全髋关节置换术(THA)及其手术困难。我们在此描述一例通过THA治疗的骨硬化症患者的左髋骨关节炎病例,以分享我们在治疗过程中的经验。该患者是一名52岁的骨硬化症女性,因左髋疼痛伴活动受限20年病史转诊至我科。患者无骨折史或家族史。患者接受了左髋THA手术。在6个月、1年和2年的随访中,假体位置良好,患者无症状且无疼痛。因此,当ADOP患者患有疼痛性髋骨关节炎时,THA可能是一种可行的治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/d7c23199b071/etm-19-04-2702-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/0f23aa980be5/etm-19-04-2702-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/792fcaa665ec/etm-19-04-2702-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/893ae22074ba/etm-19-04-2702-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/692b7d5d7a0f/etm-19-04-2702-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/d7c23199b071/etm-19-04-2702-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/0f23aa980be5/etm-19-04-2702-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/792fcaa665ec/etm-19-04-2702-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/893ae22074ba/etm-19-04-2702-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/692b7d5d7a0f/etm-19-04-2702-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e2a/7086189/d7c23199b071/etm-19-04-2702-g04.jpg

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本文引用的文献

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BMJ Case Rep. 2019 Mar 20;12(3):e224452. doi: 10.1136/bcr-2018-224452.
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Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.5 岁以上患者成骨不全症的干细胞移植。
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Management of early-onset hip osteoarthritis in an adolescent patient with osteopetrosis tarda: a case report.迟发性骨硬化症青少年患者早发性髋骨关节炎的管理:一例报告
全髋关节置换术治疗常染色体显性遗传骨硬化症并发髋关节疾病:病例报告。
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Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature.骨硬化症患者骨折管理的遗传模式、挑战及结果。病例系列及相关文献综述。
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