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估算进展为肾衰竭的单基因肾病的患病率。

Estimating prevalence in single-gene kidney diseases progressing to renal failure.

作者信息

Levy M, Feingold J

机构信息

Unité INSERM 535 Génétique épidémiologique et structure des populations humaines, Bâtiment INSERM Gregory Pincus,Le Kremlin Bicêtre, and Laboratoire d'anthropologie, case 7041, Université Paris VII, Paris, France.

出版信息

Kidney Int. 2000 Sep;58(3):925-43. doi: 10.1046/j.1523-1755.2000.00250.x.

Abstract

Incidence and prevalence, the measures of "frequency, " are often confused. While in a nonhereditary situation, the useful parameter is the incidence rate, evaluating the impact of an etiologic factor, it is prevalence that is considered useful in a hereditary disease. Prevalence may concern either the whole population or a fraction of this population, that is, males or females or individuals at a given age, for example, at birth. Pathologic phenotype and morbid genotype prevalences have to be clearly differentiated. In this article, we review the epidemiologic surveys allowing an estimation of the distribution of major single-gene kidney diseases progressing to renal failure in different populations. In order to compare their results, the geographic/ethnic composition of the population, the determination of its size, the choice and mode of calculation of the epidemiologic measure, the definition of the disease and modes of diagnosis, the inclusion of cases, the sources of ascertainment and the possible causes of underascertainment, and the period of time during which events were counted should be analyzed accurately. Although their impact in terms of morbidity, hospitalizations, mortality, and cost to society is high, this review shows that information on the prevalence of single-gene kidney diseases is far from complete. To date, the data essentially apply to large populations of European origin. A part of the variation among prevalence data may be due to methodological differences. Not representative are the small populations in which some rare diseases, especially recessive, are found with a high prevalence.

摘要

发病率和患病率这两个“频率”指标常常被混淆。在非遗传性情况下,有用的参数是发病率,用于评估病因因素的影响;而在遗传性疾病中,患病率才被认为是有用的。患病率可以涉及整个人口或该人口的一部分,即男性或女性,或特定年龄的个体,例如出生时的个体。必须明确区分病理表型患病率和致病基因型患病率。在本文中,我们回顾了一些流行病学调查,这些调查有助于估计不同人群中进展为肾衰竭的主要单基因肾病的分布情况。为了比较它们的结果,需要准确分析人群的地理/种族构成、其规模的确定、流行病学指标的选择和计算方式、疾病的定义和诊断方式、病例的纳入、确定的来源以及未充分确定的可能原因,以及计算事件的时间段。尽管单基因肾病在发病率、住院率、死亡率和社会成本方面的影响很大,但本次综述表明,关于单基因肾病患病率的信息远未完整。迄今为止,这些数据基本上适用于欧洲血统的大量人群。患病率数据之间的部分差异可能归因于方法学上的不同。一些罕见疾病,尤其是隐性疾病,在其中患病率很高的小群体并不具有代表性。

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