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遗传性视网膜营养不良患者的患病率及相关影响因素:台湾一项基于全国人口的研究。

Prevalence and associated relating factors in patients with hereditary retinal dystrophy: a nationwide population-based study in Taiwan.

机构信息

Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien, Taiwan.

Institute of Medical Sciences, Tzu Chi University, Hualien, Taiwan.

出版信息

BMJ Open. 2022 Apr 8;12(4):e054111. doi: 10.1136/bmjopen-2021-054111.

Abstract

OBJECTIVE

To investigate the prevalence, incidence and relating factors that are associated with hereditary retinal dystrophy (HRD) in Taiwan from 2000 to 2013.

DESIGN, SETTING AND PARTICIPANTS: This is a nationwide, population-based, retrospective case-control study using National Health Insurance Database. Study groups are patients with HRD as case group; age-matched patients without any diagnosis of HRD as control group. We enrolled 2418 study subjects, of which 403 were HRD patients. Important relating factors such as hypertension, diabetes, coronary artery disease, autoimmune disease, cancer, liver cirrhosis, chronic kidney disease, stroke, hyperlipidaemia, asthma, depression and dementia are also included.

EXPOSURE

Patients diagnosed with HRD were retrieved from National Health Insurance Database.

MAIN OUTCOMES AND MEASURES

OR calculated between the relating factors and HRD for objects and stratified by age and sex group between 2000 and 2013.

RESULTS

Four hundred and three patients were included in the study group and 2015 in the control group. The incidence of HRD was 3.29/100 000, and the prevalence of HRD was 40.5/100 000 persons. The tendency of study group to have more cataract, cystoid macula oedema (CME) as compared with the control group. Among the subgroup with comorbidities, the relating factors such as hypertension, diabetes and chronic kidney disease was significantly higher among HRD patients with age 55 and above.

CONCLUSIONS

74% of the diagnosed HRD are retinitis pigmentosa. Population-based data suggested an increased incidence of cataract in younger patients, whereas older HRD patients are more susceptible to develop CME. Further work is needed to elucidate the mechanism between these ophthalmological disorders and HRD.

摘要

目的

调查 2000 年至 2013 年台湾遗传性视网膜营养不良(HRD)的患病率、发病率和相关因素。

设计、地点和参与者:这是一项基于全国人口的回顾性病例对照研究,使用国家健康保险数据库。研究组为 HRD 患者为病例组;年龄匹配且无 HRD 诊断的患者为对照组。共纳入 2418 名研究对象,其中 HRD 患者 403 名。还包括高血压、糖尿病、冠状动脉疾病、自身免疫性疾病、癌症、肝硬化、慢性肾脏病、中风、高脂血症、哮喘、抑郁症和痴呆等重要相关因素。

暴露

从国家健康保险数据库中检索出诊断为 HRD 的患者。

主要结果和测量

2000 年至 2013 年期间,用 OR 计算各相关因素与 HRD 之间的关系,并按年龄和性别分层。

结果

本研究共纳入 403 例患者为病例组,2015 例患者为对照组。HRD 的发病率为 3.29/100000,患病率为 40.5/100000 人。与对照组相比,研究组的白内障和囊样黄斑水肿(CME)发生率更高。在合并症亚组中,年龄在 55 岁及以上的 HRD 患者中,高血压、糖尿病和慢性肾脏病等相关因素的发生率明显更高。

结论

74%的确诊 HRD 为色素性视网膜炎。基于人群的数据表明,年轻患者白内障的发病率增加,而年龄较大的 HRD 患者更容易发生 CME。需要进一步研究阐明这些眼部疾病与 HRD 之间的机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d362/8995947/4cb49f3c28f4/bmjopen-2021-054111f01.jpg

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