评估 Kienböck 病家族聚集性：一项基于人群的队列研究。
Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study.
机构信息
Department of Orthopaedics, University of Utah, Salt Lake City, UT.
Utah Population Database Resource, Huntsman Cancer Institute, Salt Lake City, UT.
出版信息
J Hand Surg Am. 2020 Jan;45(1):1-8.e1. doi: 10.1016/j.jhsa.2019.10.005. Epub 2019 Nov 22.
PURPOSE
Kienböck disease (KD) is rare and its etiology remains unknown. As a result, the ideal treatment is also in question. Our primary purpose was to test the hypothesis that KD would demonstrate familial clustering in a large statewide population with comprehensive genealogical records, possibly suggesting a genetic etiologic contribution. Our secondary purpose was to evaluate for associations between KD and known risk factors for avascular necrosis.
METHODS
Patients diagnosed with KD were identified by searching medical records from a comprehensive statewide database, the Utah Population Database. This database contains pedigrees dating back to the early 1800s, which are linked to 31 million medical records for 11 million patients from 1996 to the present. Affected individuals were then mapped to pedigrees to identify high-risk families with an increased incidence of KD relative to control pedigrees. The magnitude of familial risk of KD in related individuals was calculated using Cox regression models. Association of risk factors related to KD was analyzed using conditional logistic regression.
RESULTS
We identified 394 affected individuals linked to 194 unrelated high-risk pedigrees with increased incidence of KD. The relative risk of developing KD was significantly elevated in first-degree relatives. There was a significant correlation between alcohol, glucocorticoid, and tobacco use and a history of diabetes, and the diagnosis of KD.
CONCLUSIONS
Familial clustering of KD observed in the Utah Population Database cohort indicates a potential genetic contribution to the etiology of the disease. Identification of causal gene variants in these high-risk families may provide insight into the genes and pathways that contribute to the onset and progression of KD.
CLINICAL RELEVANCE
This study suggests that there is a potential genetic contribution to the etiology of KD and that the disease has a significant association with several risk factors.
目的
月骨缺血性坏死（KD）较为罕见，其病因仍不清楚。因此，理想的治疗方法也存在疑问。我们的主要目的是检验以下假设，即在一个拥有全面系谱记录的大型全州人群中，KD 会表现出家族聚集性，这可能提示其具有遗传病因学贡献。我们的次要目的是评估 KD 与已知的股骨头坏死风险因素之间的关联。
方法
通过在一个综合性全州数据库——犹他州人群数据库中搜索医疗记录，鉴定出 KD 患者。该数据库包含可追溯到 19 世纪早期的系谱，与从 1996 年至今的 1100 万患者的 3100 万份医疗记录相关联。然后将受影响的个体映射到系谱中，以鉴定出 KD 发病率相对较高的高危家族。使用 Cox 回归模型计算相关个体 KD 的家族风险幅度。使用条件逻辑回归分析与 KD 相关的风险因素的关联。
结果
我们鉴定出 394 名与 194 个无关高危系谱相关的 KD 患者。一级亲属发生 KD 的相对风险显著升高。酒精、糖皮质激素和烟草使用与糖尿病病史以及 KD 的诊断显著相关。
结论
在犹他州人群数据库队列中观察到的 KD 家族聚集表明其病因可能存在遗传因素。在这些高危家族中鉴定出因果基因变异可能有助于深入了解导致 KD 发病和进展的基因和途径。
临床相关性
本研究表明 KD 的病因可能存在遗传因素，并且该疾病与多个风险因素具有显著关联。
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