醛固酮与肾素比值是原发性醛固酮增多症最可靠的筛查方法,已广泛应用于临床,但是该指数受许多因素的影响,其中一些会导致假阴性,因此导致原发性醛固酮增多症的诊断不足。我们报告了一例罕见的病例,一例27岁的妇女抱怨动脉血压升高和自发性低钾血症,但其醛固酮与肾素的比率连续为负。她也有多饮和多尿的症状超过20年,每天的水摄入量和尿量高达17升。生理盐水输注试验和卡托普利激发试验的确证试验不能将血浆醛固酮浓度抑制到临界值。腹部对比增强CT提示右肾上腺腺瘤。在排除其他已知的高血压合并低钾血症的原因后,该患者最终被诊断为醛固酮腺瘤并伴有原发性烦渴。单侧肾上腺切除术后临床完全缓解。组织病理学表现为肾上腺皮质腺瘤的典型特征,免疫组化CYP11B2阳性,肿瘤组织的下一代测序结果显示KCNJ5基因发生错义突变[chr11:128781619,c.451(外显子2)G>A]。所有这些发现都支持醛固酮产生腺瘤的诊断。这项研究表明,醛固酮与肾素比值的阴性筛查结果不能简单地排除原发性醛固酮增多症。临床工作中应采取全面的患者评估,避免漏诊,特别是对于那些有潜在治愈性手术的人。
Aldosterone-to-renin ratio is the most reliable screening method of primary aldosteronism and has been widely used in clinical practice, but the index is influenced by many factors, some of which cause it false-negative, consequently leading to primary aldosteronism underdiagnosed. We report a rare
case of a 27-year-old woman complaining of elevated arterial blood pressure and spontaneous hypokalemia but whose aldosterone-to-renin ratio were negative consecutively. She also had symptoms of polydipsia and polyuria for more than 20 years, with the volume of water intake and urine output up to 17 liters per day. Confirmatory tests of saline infusion test and captopril challenge test could not suppress plasma aldosterone concentration to the cutoff value. Abdominal contrast-enhanced CT suggested an adenoma on the right adrenal gland. After excluding other known causes of hypertension with hypokalemia, the patient was ultimately diagnosed with aldosterone-producing adenoma complicated with primary polydipsia. Complete clinical remission was achieved after unilateral adrenalectomy. The histopathology showed typical features of adrenocortical adenoma which was positive for CYP11B2 by immunohistochemistry, and next-generation sequencing results of tumor tissues revealed a missense mutation of the KCNJ5 gene [chr11:128781619, c.451 (exon 2) G>A]. All these findings supported the diagnosis of aldosterone-producing adenoma. This study has shown that negative aldosterone-to-renin ratio screening result cannot simply exclude primary aldosteronism. Comprehensive patient\'s evaluation should be taken to avoid missed diagnosis in clinical work, especially for those who have potentially curative surgery.