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以跖骨应力性骨折为表现的成人低磷性骨软化症的诊断:一种病例发现策略的概念验证

Diagnosis of Hypophosphatasia in Adults Presenting With Metatarsal Stress Fracture: Proof-of-Concept for a Case-Finding Strategy.

作者信息

Koehler Kenna, Atway Said, Pipes James, Ing Steven

机构信息

Ohio State University College of Medicine Columbus OH USA.

Division of Podiatry Ohio State University Wexner Medical Center Columbus OH USA.

出版信息

JBMR Plus. 2021 Apr 2;5(6):e10495. doi: 10.1002/jbm4.10495. eCollection 2021 Jun.

Abstract

Hypophosphatasia (HPP) is caused by loss-of-function mutations in resulting in decreased alkaline phosphatase (ALP) activity. Metatarsal stress fracture (MSF) is a common clinical feature of hypophosphatasia in adults. In this study, the primary objectives were to determine whether new cases of variants could be identified in patients with MSF and who also had serum ALP concentration below the reference range and to phenotype their clinical course. Electronic health records were queried for adult patients with MSF using International Classification of Disease codes (ICD-9, ICD-10CM) and ALP measurements. Patients with ALP levels below the normal limit were invited to receive mutational analysis of and to complete the following surveys: the Short Form 36 version 2 (SF36v2), the Brief Pain Inventory-Short Form (BPI), and the Health Assessment Questionnaire Disability Index (HAQ-DI). Cases with and controls without pathogenic variants were compared by survey scores and clinical variables relevant to fracture. In 1611 patients with MSF presenting to a podiatry clinic (10/1/2011-10/1/2017), 937 had ALP measurement, of whom 13 (1.4%) had ALP levels below the lower normal limit. In eight patients consenting to participate, two had heterozygous pathogenic variants. variants were found in 2 of 1611 patients (0.12%) with MSF, 2 patients of 937 (0.21%) in those with MSF and any ALP measurement, and 2 of 13 patients (15%) in MSF and decreased ALP level. Cases versus controls rated lower scores on eight of eight SF36v2 scales (range, 0-100); higher scores for worst pain (8.0 vs. 0.8) and average pain (6.0 vs. 0.7) on the BPI (range, 0-10); and higher standard disability score (1.4 vs. 0) on the HAQ-DI (range, 0-3). These data provide proof-of-concept for HPP case identification in patients presenting to a podiatry clinic with MSF, suggesting a search for historically low ALP levels may be a useful step for consideration of HPP diagnosis, and supports a prospective study to determine an optimal case-finding strategy. © 2021 The Authors. published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

摘要

低磷性骨软化症(HPP)是由导致碱性磷酸酶(ALP)活性降低的功能丧失性突变引起的。跖骨应力性骨折(MSF)是成人低磷性骨软化症的常见临床特征。在本研究中,主要目的是确定在患有MSF且血清ALP浓度低于参考范围的患者中是否能鉴定出新的 变体病例,并对其临床病程进行表型分析。使用国际疾病分类代码(ICD - 9、ICD - 10CM)和ALP测量值查询成年MSF患者的电子健康记录。邀请ALP水平低于正常限值的患者接受 突变分析,并完成以下调查:简短健康调查问卷第2版(SF36v2)、简明疼痛问卷简表(BPI)和健康评估问卷残疾指数(HAQ - DI)。通过调查得分和与骨折相关的临床变量比较有和没有 致病变体的病例与对照。在一家足病诊所就诊的1611例MSF患者(2011年10月1日 - 2017年10月1日)中,937例进行了ALP测量,其中13例(1.4%)的ALP水平低于正常下限。在同意参与的8例患者中,2例有杂合致病性 变体。在1611例MSF患者中有2例(0.12%)发现 变体,在937例进行了ALP测量的MSF患者中有2例(0.21%)发现 变体,在13例MSF且ALP水平降低的患者中有2例(15%)发现 变体。病例组与对照组在SF36v2的八个量表中的八个上得分较低(范围为0 - 100);在BPI上,最严重疼痛(8.0对0.8)和平均疼痛(6.0对0.7)得分较高(范围为0 - 10);在HAQ - DI上,标准残疾得分较高(1.4对0)(范围为0 - 3)。这些数据为在足病诊所就诊的MSF患者中识别HPP病例提供了概念验证,表明寻找历史上低ALP水平可能是考虑HPP诊断的有用步骤,并支持进行前瞻性研究以确定最佳的病例发现策略。© 2021作者。由Wiley Periodicals LLC代表美国骨与矿物质研究学会出版。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dea8/8216134/5ec387f548e9/JBM4-5-e10495-g005.jpg

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