Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members,Fluids and Barriers of the CNS

当前位置： X-MOL 学术 › Fluids Barriers CNS › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members
Fluids and Barriers of the CNS ( IF 5.9 ) Pub Date : 2020-09-15 , DOI: 10.1186/s12987-020-00217-0
Joel Räsänen _{1,

2} , Joel Huovinen _{1,

2} , Ville E Korhonen _{1,

2} , Antti Junkkari _{1,

2} , Sami Kastinen _{1,

2} , Simo Komulainen _{1,

2} , Minna Oinas _{3,

4} , Cecilia Avellan _{5,

6} , Janek Frantzen _{3,

4} , Jaakko Rinne _{5,

6} , Antti Ronkainen ₇ , Mikko Kauppinen ₈ , Kimmo Lönnrot _{3,

4} , Markus Perola _{9,

10} , Anne M Koivisto ₁₁ , Anne M Remes _{12,

13} , Hilkka Soininen ₁₁ , Mikko Hiltunen ₁₄ , Seppo Helisalmi ₁₁ , Mitja I Kurki _{15,

16,

17} , Juha E Jääskeläinen _{1,

2} , Ville Leinonen _{1,

2,

8}

Affiliation

Department of Neurosurgery, Kuopio University Hospital, P.O.Box 100, 70029, Kuopio, KYS, Finland.
Institute of Clinical Medicine-Neurosurgery, University of Eastern Finland, Kuopio, Finland.
Department of Neurosurgery, University of Helsinki, Helsinki, Finland.
Department of Neurosurgery, Helsinki University Hospital, Helsinki, Finland.
Clinical Neurosciences, Department of Neurosurgery, University of Turku, Turku, Finland.
Department of Neurosurgery, Turku University Hospital, Turku, Finland.
Department of Neurosurgery, Tampere University Hospital, Tampere, Finland.
Unit of Clinical Neuroscience, Neurosurgery, University of Oulu and Medical Research Center, Oulu University Hospital, Oulu, Finland.
National Institute for Health and Welfare, Helsinki, Finland.
University of Helsinki, Helsinki, Finland.
Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.
Medical Research Center, Oulu University Hospital, Oulu, Finland.
Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.
Stanley Center for Psychiatric Research, Broad Institute for Harvard and MIT, Cambridge, USA.

Background The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH) is still unclear. Previous studies have shown a familial aggregation and a potential heritability when it comes to iNPH. Our aim was to conduct a novel case-controlled comparison between familial iNPH (fNPH) patients and their elderly relatives, involving multiple different families. Methods Questionnaires and phone interviews were used for collecting the data and categorising the iNPH patients into the familial (fNPH) and the sporadic groups. Identical questionnaires were sent to the relatives of the potential fNPH patients. Venous blood samples were collected for genetic studies. The disease histories of the probable fNPH patients (n = 60) were compared with their ≥ 60-year-old relatives with no iNPH (n = 49). A modified Charlson Comorbidity Index (CCI) was used to measure the overall disease burden. Fisher’s exact test (two-tailed), the Mann–Whitney U test (two-tailed) and a multivariate binary logistic regression analysis were used to perform the statistical analyses. Results Diabetes (32% vs. 14%, p = 0.043), arterial hypertension (65.0% vs. 43%, p = 0.033), cardiac insufficiency (16% vs. 2%, p = 0.020) and depressive symptoms (32% vs. 8%, p = 0.004) were overrepresented among the probable fNPH patients compared to their non-iNPH relatives. In the age-adjusted multivariate logistic regression analysis, diabetes remained independently associated with fNPH (OR = 3.8, 95% CI 1.1–12.9, p = 0.030). Conclusions Diabetes is associated with fNPH and a possible risk factor for fNPH. Diabetes could contribute to the pathogenesis of iNPH/fNPH, which motivates to further prospective and gene-environmental studies to decipher the disease modelling of iNPH/fNPH.

中文翻译：

糖尿病与家族性特发性正常压力脑积水有关：与家庭成员的病例对照比较

背景特发性正常压力脑积水（iNPH）的病理生理基础尚不清楚。先前的研究表明，iNPH 具有家族聚集性和潜在的遗传性。我们的目的是在家族性 iNPH (fNPH) 患者与其年长亲属之间进行新的病例对照比较，涉及多个不同的家庭。方法采用问卷调查和电话访谈的方式收集数据并将iNPH患者分为家族性（fNPH）和散发性组。向潜在 fNPH 患者的亲属发送了相同的问卷。收集静脉血样本用于基因研究。将可能患有 fNPH 的患者（n = 60）的病史与其年龄≥ 60 岁且没有 iNPH 的亲属（n = 49）进行比较。使用改良的查尔森合并症指数 (CCI) 来衡量总体疾病负担。使用 Fisher 精确检验（双尾）、Mann-Whitney U 检验（双尾）和多元二元逻辑回归分析进行统计分析。结果糖尿病（32% 对 14%，p = 0.043）、动脉高血压（65.0% 对 43%，p = 0.033）、心功能不全（16% 对 2%，p = 0.020）和抑郁症状（32%）与 8% 相比，p = 0.004）在可能的 fNPH 患者中与其非 iNPH 亲属相比比例过高。在年龄调整的多变量逻辑回归分析中，糖尿病仍然与 fNPH 独立相关（OR = 3.8，95% CI 1.1–12.9，p = 0.030）。结论糖尿病与 fNPH 相关，并且是 fNPH 的可能危险因素。糖尿病可能有助于 iNPH/fNPH 的发病机制，

更新日期：2020-09-15

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文