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髋关节发育不良患者亲属中隐匿性髋臼发育不良的发生情况

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.

作者信息

Carroll Kristen L, Schiffern Alison N, Murray Kathleen A, Stevenson David A, Viskochil David H, Toydemir Reha, MacWilliams Bruce A, Roach James W

机构信息

*Salt Lake City Shriners Hospitals for Children ‡Division of Medical Genetics §ARUP Laboratories, Department of Pathology, University of Utah, Salt Lake City, UT †Gillette Children's Specialty Healthcare, Saint Paul, MN ∥Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA.

出版信息

J Pediatr Orthop. 2016 Jan;36(1):96-100. doi: 10.1097/BPO.0000000000000403.

Abstract

BACKGROUND

This study sought to determine the hip pathology of family members of patients with developmental dysplasia of the hip (DDH). The authors evaluated 120 people from 19 families known to have at least 1 member with surgically treated DDH. Each individual's functional outcome scores and pelvic radiographs were assessed for hip symptoms or pathology.

METHODS

Using a genetic population database and a pediatric hospital patient population, 19 families with high rates of DDH were identified. All family members (n=120) underwent physical examination, radiographic assessment, and completion of outcome instruments [American Academy of Orthopedics (AAOS) Hip and Knee; Harris Hip Score (HHS); and Western Ontario and McMaster Universities Arthritis Index (WOMAC)].

RESULTS

The 120 subjects ranged from 1 to 84 years, 34 had orthopaedically treated DDH. Of the remaining 86 supposedly normal subjects, 23 (27%) had occult acetabular dysplasia (OAD) as defined by center edge angle (CEA) <20 and/or a Severin score of III or greater. Sixty percent of the 86 individuals were less than 30 years old, 74% of the OAD group were less than 30. Outcome scores of the treated DDH patients (AAOS, HHS, and WOMAC) were worse on the involved side regardless of age. Over age 30 individuals with OAD had statistically significant decreases in their AAOS Hip and Knee and WOMAC scores on the dysplastic side, but their HHS scores were not significantly different.

CONCLUSIONS

Twenty-seven percent of first-degree and second-degree relatives of patients with DDH had unsuspected radiographic acetabular dysplasia in our study. Most of the subjects with OAD were younger than 30. After age 30, many of these patients developed symptoms.

CLINICAL RELEVANCE

In families with a significant history of DDH, radiographic screening of siblings of patients with DDH to define OAD may be prudent.

LEVEL OF EVIDENCE

Level I—diagnostic study.

摘要

背景

本研究旨在确定发育性髋关节发育不良(DDH)患者家庭成员的髋关节病理情况。作者评估了来自19个家庭的120人,这些家庭中已知至少有1名成员接受过DDH手术治疗。对每个个体的功能结局评分和骨盆X线片进行评估,以确定是否存在髋关节症状或病理情况。

方法

利用遗传人群数据库和一家儿科医院的患者群体,确定了19个DDH发病率较高的家庭。所有家庭成员(n = 120)均接受了体格检查、影像学评估,并完成了结局评估工具[美国矫形外科学会(AAOS)髋关节和膝关节;Harris髋关节评分(HHS);以及西安大略和麦克马斯特大学骨关节炎指数(WOMAC)]。

结果

120名受试者年龄在1至84岁之间,其中34人接受过DDH的骨科治疗。在其余86名据推测正常的受试者中,23人(27%)存在隐匿性髋臼发育不良(OAD),定义为中心边缘角(CEA)<20°和/或Severin评分III级或更高。86名个体中有60%年龄小于30岁,OAD组中74%年龄小于30岁。无论年龄大小,接受治疗的DDH患者患侧的结局评分(AAOS、HHS和WOMAC)均较差。年龄超过30岁的OAD个体,其发育不良侧的AAOS髋关节和膝关节评分及WOMAC评分有统计学意义的下降,但其HHS评分无显著差异。

结论

在我们的研究中,DDH患者的一级和二级亲属中有27%存在未被怀疑的影像学髋臼发育不良。大多数OAD受试者年龄小于30岁。30岁以后,这些患者中的许多人出现了症状。

临床意义

在有显著DDH病史的家庭中,对DDH患者的兄弟姐妹进行影像学筛查以确定OAD可能是明智的。

证据水平

I级——诊断性研究。

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