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成人低磷酸酯酶症的骨科问题:两例报告

Orthopaedic problems in adult hypophosphatasia: a report of two cases.

作者信息

Anderton J M

出版信息

J Bone Joint Surg Br. 1979 Feb;61(1):82-4. doi: 10.1302/0301-620X.61B1.422640.

DOI:10.1302/0301-620X.61B1.422640
PMID:422640
Abstract

Hypophosphatasia in adults is rare. Two elderly sisters presenting with pathological fractures of the femur are reported to illustrate the difficulties in orthopaedic management of this disease. All patients with a history of repeated fractures, especially from minor trauma and with generalised radiological bony abnormality, should be screened for this rare disease. A consistently low level of serum alkaline phosphatase with the presence of phosphoethanolamine in the urine is diagnostic.

摘要

成人低磷酸酯酶症较为罕见。本文报道了两名老年姐妹因股骨病理性骨折就诊,以说明该病在骨科治疗中所面临的困难。所有有反复骨折病史的患者,尤其是因轻微创伤导致骨折且伴有全身性骨骼影像学异常者,均应筛查这种罕见疾病。血清碱性磷酸酶持续处于低水平且尿中存在磷酸乙醇胺可作为诊断依据。

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1
Orthopaedic problems in adult hypophosphatasia: a report of two cases.成人低磷酸酯酶症的骨科问题:两例报告
J Bone Joint Surg Br. 1979 Feb;61(1):82-4. doi: 10.1302/0301-620X.61B1.422640.
2
Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all.低磷酸酯酶症患者的股骨转子下和骨干骨折——根本不足为奇。
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Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.组织非特异性碱性磷酸酶基因复合杂合p.Phe327Leu错义突变和c.1559delT移码突变的成人低磷性骨软化症:一例报告
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Hypophosphatasia in an adult.成人低磷性骨软化症
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Complete fractures of the femur in Paget's disease of bone.骨佩吉特病中的股骨完全骨折。
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Hypophosphatasia and the risk of atypical femur fractures: a case-control study.低磷性骨软化症与非典型股骨骨折风险:一项病例对照研究。
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[Slow fractures: torpid and stress fractures].[隐匿性骨折:疲劳骨折和应力性骨折]
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Hypophosphatasia may lead to bone fragility: don't miss it.低磷酸酯酶症可能导致骨质脆弱:切勿漏诊。
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Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures.特立帕肽治疗曾接受双膦酸盐治疗的低磷酸酶血症成年患者,并由双侧非典型骨折表现。
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引用本文的文献

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A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.在美国,建立共识以评估成人生长激素缺乏症患者疾病严重程度和疾病进展的德尔菲小组。
J Endocrinol Invest. 2024 Jun;47(6):1487-1497. doi: 10.1007/s40618-023-02256-4. Epub 2024 Jan 18.
2
Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.成人生长激素缺乏症患者肌肉症状和/或疼痛对疾病特征、残疾和生活质量的影响:来自全球 HPP 登记处的横断面分析。
Front Endocrinol (Lausanne). 2023 Mar 27;14:1138599. doi: 10.3389/fendo.2023.1138599. eCollection 2023.
3
Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview.成骨不全症患儿的疾病负担:HPP 影响患者调查和 HPP 结局研究电话访谈的结果。
Orphanet J Rare Dis. 2019 Aug 16;14(1):201. doi: 10.1186/s13023-019-1167-5.
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Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia.一名成年起病型低磷酸酯酶症患者出现多处骨折、疼痛和严重残疾。
Bone Rep. 2015 Oct 30;4:1-4. doi: 10.1016/j.bonr.2015.10.005. eCollection 2016 Jun.
5
Bilateral Femoral Neck Fractures in A Young Patient Suffering from Hypophosphatasia, Due to A First Time Epileptic Seizure.一名患有低磷酸酯酶症的年轻患者因首次癫痫发作导致双侧股骨颈骨折。
J Orthop Case Rep. 2015 Jul-Sep;5(3):66-8. doi: 10.13107/jocr.2250-0685.312.
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Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family.无明显骨骼疾病的成人低磷酸酯酶症:一个家族中四名杂合子成员的“牙本质低磷酸酯酶症”
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