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奥姆斯特德县常染色体显性遗传性多囊肾病的流行病学。

Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County.

机构信息

Division of Nephrology and Hypertension.

Epidemiology, and.

出版信息

Clin J Am Soc Nephrol. 2020 Jan 7;15(1):69-79. doi: 10.2215/CJN.05900519. Epub 2019 Dec 2.

DOI:10.2215/CJN.05900519
PMID:31791998
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6946081/
Abstract

BACKGROUND AND OBJECTIVES

The prevalence of autosomal dominant polycystic kidney disease (ADPKD) remains controversial. Incidence rates in Olmsted County, Minnesota, during 1935-1980 were previously reported. The current work extends this study to 2016.

DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center (healthcare providers for Olmsted County) were searched to identify all subjects meeting diagnostic criteria for definite, likely, and possible ADPKD. Annual incidence rates were calculated using incident cases during 1980-2016 as numerator and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator and age- and sex-specific estimates of the population of Olmsted County on January 1, 2010 as denominator. Survival curves from the time of diagnosis were compared with expected survival of the Minnesota population.

RESULTS

The age- and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980-2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 times higher than that previously reported for 1935-1980 (1.38 per 100,000 person-years). The point prevalence of definite or likely ADPKD on January 1, 2010 was 68 (95% CI, 53.90 to 82.13) per 100,000 population. Much higher incidence rates and point prevalence were obtained when possible ADPKD cases were included. Contrary to the previous Olmsted County study, patient survival in this study was not different from that in the general population.

CONCLUSIONS

The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases.

摘要

背景和目的

常染色体显性多囊肾病(ADPKD)的患病率仍存在争议。明尼苏达州奥姆斯特德县 1935-1980 年的发病率此前已有报道。本研究将这一研究扩展到 2016 年。

设计、地点、参与者和测量方法:罗切斯特流行病学项目和梅奥诊所和奥姆斯特德医疗中心(奥姆斯特德县的医疗服务提供者)的放射学数据库被搜索,以确定所有符合明确、可能和可能 ADPKD 诊断标准的患者。使用 1980-2016 年期间的发病病例作为分子,奥姆斯特德县人口的年龄和性别特定估计作为分母,计算年度发病率。使用发病病例作为分子,奥姆斯特德县 2010 年 1 月 1 日的年龄和性别特定人口估计作为分母,计算时点患病率。从诊断时间开始的生存曲线与明尼苏达州人群的预期生存进行比较。

结果

1980-2016 年,年龄和性别调整后的明确和可能 ADPKD 诊断的年发病率为 3.06(95%CI,2.52 至 3.60)/100000 人年,是此前报道的 1935-1980 年(1.38/100000 人年)的 2.2 倍。2010 年 1 月 1 日,明确或可能 ADPKD 的时点患病率为 68(95%CI,53.90 至 82.13)/100000 人。纳入可能的 ADPKD 病例后,发病率和时点患病率均显著增高。与之前的奥姆斯特德县研究不同,本研究中患者的生存情况与普通人群无差异。

结论

本研究观察到的明确和可能 ADPKD 的时点患病率高于文献报道,但低于基于疾病预期寿命估计或大型人群测序数据库分析的遗传患病率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74a8/6946081/468d7e1f46c8/CJN.05900519absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74a8/6946081/468d7e1f46c8/CJN.05900519absf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74a8/6946081/468d7e1f46c8/CJN.05900519absf1.jpg

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