Variation of phenotype in patients with glucocorticoid remediable aldosteronism

被引:23
作者
Gates, LJ
MacConnachie, AA
Lifton, RP
Haites, NE
Benjamin, N
机构
[1] UNIV ABERDEEN,DEPT MOLEC & CELL BIOL,ABERDEEN AB9 2ZD,SCOTLAND
[2] YALE UNIV,SCH MED,BOYER CTR MOLEC MED,NEW HAVEN,CT 06520
关键词
hypertension; hyperaldosteronism; hypokalaemia;
D O I
10.1136/jmg.33.1.25
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Glucocorticoid remediable aldosteronism (GRA), an autosomal dominant cause of primary aldosteronism, has been described as resulting in severe hypertension with premature death from stroke. We describe two new large pedigrees which include subjects who have the abnormal chimaeric gene strongly linked to GRA. The majority of affected members, who have only mild hypertension and normal biochemistry, are clinically indistinguishable from patients with essential hypertension. It is therefore Likely that this condition is underdiagnosed.
引用
收藏
页码:25 / 28
页数:4
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