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在高血压人群中进行随机筛查以检测糖皮质激素可治性醛固酮增多症是否有价值?

Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population?

作者信息

Gates L J, Benjamin N, Haites N E, MacConnachie A A, McLay J S

机构信息

Department of Medicine and Therapeutics, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen AB25 2ZD, UK.

出版信息

J Hum Hypertens. 2001 Mar;15(3):173-6. doi: 10.1038/sj.jhh.1001152.

DOI:10.1038/sj.jhh.1001152
PMID:11317201
Abstract

INTRODUCTION

Glucocorticoid-remediable aldosteronism (GRA) is a rare inherited cause for hypertension associated with a significant morbidity and mortality at an early age. Individuals with this abnormality frequently present with severe hypertension which is resistant to standard antihypertensive therapy, a strong family history of hypertension, intracranial haemorrhage, and sporadic hypokalaemia. However many affected individuals may appear phenotypically indistinguishable from normal essential hypertensives but remain at high risk of morbidity and mortality.

OBJECTIVE

To determine how effective random or targeted screening of hypertensive patients is for the detection of GRA.

DESIGN

A prospective study involving the screening of 300 hypertensive patients chosen at random attending the Aberdeen Hypertension Clinic and, during the same period, the targeted screening of patients with a medical and family history suggestive of GRA.

SETTING

A University hospital with a primary catchment of 500,000 inhabitants and a hypertension clinic population of over 8500 patients.

RESULTS

Random screening failed to identify any GRA mutation-positive individuals. Targeted screening of selected individuals revealed two index families and four further families containing 40 mutation-positive individuals.

CONCLUSION

Targeted screening of hypertensive individuals with a family history of hypertension, cerebral haemorrhage, a history of hypertension from an early age, resistant hypertension which has proven difficult to control and hypokalaemia revealed two index cases and four further individuals and 30 hypertensive and 10 normotensive members of their families with GRA.

摘要

引言

糖皮质激素可治性醛固酮增多症(GRA)是一种罕见的遗传性高血压病因,在早年就伴有显著的发病率和死亡率。患有这种异常的个体经常表现为严重高血压,对标准抗高血压治疗有抵抗性,有强烈的高血压家族史、颅内出血和散发性低钾血症。然而,许多受影响的个体在表型上可能与正常原发性高血压患者无法区分,但仍处于高发病和高死亡风险中。

目的

确定对高血压患者进行随机或针对性筛查对检测GRA的效果如何。

设计

一项前瞻性研究,包括对随机选择到阿伯丁高血压诊所就诊的300名高血压患者进行筛查,以及在同一时期对有提示GRA的病史和家族史的患者进行针对性筛查。

地点

一家大学医院,主要服务人口为50万居民,高血压诊所患者超过8500人。

结果

随机筛查未发现任何GRA突变阳性个体。对选定个体的针对性筛查发现了两个索引家族以及另外四个家族,其中包含40名突变阳性个体。

结论

对有高血压家族史、脑出血、早年高血压病史、难以控制的顽固性高血压和低钾血症的高血压个体进行针对性筛查,发现了两例索引病例和另外四名个体,以及他们家族中的30名高血压患者和10名血压正常成员患有GRA。

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