Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study.
Aseptic necrosis
Kienböck disease
familial standardized incidence ratio
genetics
lunate osteonecrosis
Journal
The Journal of hand surgery
ISSN: 1531-6564
Titre abrégé: J Hand Surg Am
Pays: United States
ID NLM: 7609631
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
27
04
2019
revised:
15
07
2019
accepted:
16
10
2019
pubmed:
26
11
2019
medline:
29
6
2021
entrez:
26
11
2019
Statut:
ppublish
Résumé
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. 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. 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. 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. 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.
Identifiants
pubmed: 31761504
pii: S0363-5023(19)31415-7
doi: 10.1016/j.jhsa.2019.10.005
pmc: PMC6943177
mid: NIHMS1543961
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-8.e1Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR000105
Pays : United States
Informations de copyright
Copyright © 2020 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.
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