Al-Harbi Taiba, Al-Shaikh Adnan
Division of Pediatric Endocrinology, the Department of Pediarics, King Khalid National Guard Hospital, King Abdul Aziz Medical City (KAMC), Western Region, Jeddah, Kingdom of Saudi Arabia.
J Pediatr Endocrinol Metab. 2012;25(11-12):1083-8. doi: 10.1515/jpem-2012-0113.
The syndrome of apparent mineralocorticoid excess (AME) is an autosomal recessive disorder characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. As a consequence, the serum cortisol half-life (T½) is prolonged, ACTH is suppressed, and serum cortisol concentration is normal. The hormonal diagnosis of the disorder is made by the increased ratio of urine-free cortisol to cortisone. In patients with AME, this ratio is 5-18, while in normal individuals it is <0.5. These studies suggest that an abnormality in cortisol action or metabolism results in cortisol behaving as a potent mineralocorticoid and causing the syndrome of AME. We report three siblings - two female and one male - with the syndrome of apparent mineralocorticoid excess who presented with hypertension, hypokalemia, low renin, and low aldosterone levels. The finding of abnormally high ratios of 24-h urine-free cortisol to cortisone in our three patients (case 1, 8.4; case 2, 25; and case 3, 7.5) confirmed the diagnosis of apparent mineralocorticoid excess syndrome in these children. They were treated with oral potassium supplements. The addition of spironolactone resulted in a decrease in blood pressure, rise in serum potassium and a gradual increase in plasma renin activity in all three. In this study, the genetic testing of those three siblings with the typical clinical features of AME has detected missense mutation c.662C>T (p.Arg208Cys) in exon 3 of the HSD11B2 gene in the homozygous state.
表观盐皮质激素过多综合征（AME）是一种常染色体隐性疾病，其特征为高血压、低钾血症、低肾素血症和醛固酮减少症。它由11β-羟类固醇脱氢酶缺乏引起，导致皮质醇在外周代谢为可的松的过程出现缺陷。结果，血清皮质醇半衰期（T½）延长，促肾上腺皮质激素（ACTH）受到抑制，而血清皮质醇浓度正常。该疾病的激素诊断通过尿游离皮质醇与可的松的比值升高来进行。在AME患者中，该比值为5 - 18，而在正常个体中则<0.5。这些研究表明，皮质醇作用或代谢异常导致皮质醇表现为强效盐皮质激素，从而引发AME综合征。我们报告了三名患有表观盐皮质激素过多综合征的同胞——两名女性和一名男性，他们均表现出高血压、低钾血症、低肾素血症和醛固酮水平降低。我们的三名患者（病例1，8.4；病例2，25；病例3，7.5）24小时尿游离皮质醇与可的松的比值异常升高，这一发现证实了这些儿童患有表观盐皮质激素过多综合征。他们接受了口服补钾治疗。添加螺内酯后，三名患者的血压均下降，血钾升高，血浆肾素活性逐渐增加。在本研究中，对这三名具有AME典型临床特征的同胞进行基因检测，发现纯合状态下HSD11B2基因第3外显子存在错义突变c.662C>T（p.Arg208Cys）。
