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结节性硬化症:牛津地区患病率的新估计

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

作者信息

Hunt A, Lindenbaum R H

出版信息

J Med Genet. 1984 Aug;21(4):272-7. doi: 10.1136/jmg.21.4.272.

DOI:10.1136/jmg.21.4.272
PMID:6492092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049296/
Abstract

Within the counties administered by the Oxford Regional Health Authority (population 2 328 100) the prevalence of tuberous sclerosis was estimated as 1 in 29 900 for persons under 65 years of age. For the population below 30 years of age the prevalence was 1 in 21 500 and for children under 5 years 1 in 15 400. Cases were ascertained through the records of the Department of Medical Genetics at Oxford and the Tuberous Sclerosis Association of Great Britain and also by a questionnaire sent to selected consultants within the region. A previous estimate of prevalence within the region was 1 in 100 000. This study suggests that the prevalence at birth might be even higher than 1 in 15 000.

摘要

在牛津地区卫生局管理的各县(人口2328100),65岁以下人群结节性硬化症的患病率估计为1/29900。30岁以下人群的患病率为1/21500,5岁以下儿童的患病率为1/15400。通过牛津医学遗传学系的记录、英国结节性硬化症协会以及向该地区选定的顾问发送的调查问卷来确定病例。该地区之前的患病率估计为1/100000。这项研究表明,出生时的患病率可能甚至高于1/15000。

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