primary aldosteronism

原发性醛固酮增多症
  • 文章类型: Journal Article
    背景:对原发性醛固酮增多症(PA)全球患病率的最新认识对于制定PA的一级预防和管理策略至关重要。我们旨在提供PA的最新全球和地区患病率,并评估PA与原发性高血压(EH)相比的心血管风险。
    方法:我们系统地搜索了PubMed,WebofScience,和Embase关于PA患病率或PA心血管风险的研究,截至2022年7月31日发表,用于本荟萃分析。使用随机效应逆方差模型计算PA的全球患病率,并使用随机效应模型估计PA的心血管风险。
    结果:我们确定了39篇文章用于PA患病率的荟萃分析,13篇文献被纳入心血管风险的荟萃分析.PA的全球患病率为9.4%(95%CI:8.3-10.5),男性患病率高于女性。东南亚的PA患病率高于其他地区,中低收入国家高于其他经济水平,与特定国家的差异更大。与EH相比,PA的冠心病风险增加(OR=1.88,95%CI:1.41-2.50),中风(OR=2.50,95%CI:2.08-3.02),心力衰竭(OR=2.06,95%CI:1.33-3.19),和心房颤动(OR=3.17,95%CI:2.09-4.80)。
    结论:对越来越多的PA患者及其相关心血管疾病负担的管理可能会给卫生系统带来越来越大的压力。早期检测PA对于减轻相关负担至关重要,特别是在对巴勒斯坦权力机构的评估没有得到足够重视的地区。
    BACKGROUND: An updated understanding of global prevalence of primary aldosteronism (PA) is essential for the development of primary prevention and management strategies for PA. We aimed to provide update global and regional prevalence of PA and to evaluate cardiovascular risk of PA compared to essential hypertension (EH).
    METHODS: We systematically searched PubMed, Web of Science, and Embase for studies on the prevalence of PA or cardiovascular risk of PA published up to July 31, 2022 for this meta-analysis. Global prevalence of PA was calculated using random-effects inverse-variance models and cardiovascular risk of PA was estimated using random-effects models.
    RESULTS: We identified 39 articles for meta-analysis of PA prevalence, and 13 articles were included in the meta-analysis of cardiovascular risk. Global prevalence of PA was 9.4% (95% CI: 8.3-10.5), with a higher prevalence in males than in females. Prevalence of PA was higher in the South-East Asia than in other regions, and higher in lower middle-income countries than in other economic levels, with greater country-specific differences. Compared with EH, PA had an increased risk of coronary artery disease (OR=1.88, 95% CI: 1.41-2.50), stroke (OR=2.50, 95% CI: 2.08-3.02), heart failure (OR=2.06, 95% CI: 1.33-3.19), and atrial fibrillation (OR=3.17, 95% CI: 2.09-4.80).
    CONCLUSIONS: The management of the increasing number of patients with PA and its associated burden of cardiovascular disease is likely to place increasing pressure on health systems. Early detection of PA is essential to reduce the associated burden, especially in areas where the assessment of PA has not received sufficient attention.
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  • 文章类型: Case Reports
    背景:低钾性横纹肌溶解症是原发性醛固酮增多症的一种罕见临床表现,使其诊断具有挑战性,特别是当它成为主要表现症状时。在这里,我们介绍1例原发性醛固酮增多症合并低钾性横纹肌溶解症的病例,并进行相关文献复习。
    方法:我们报告了一例54岁的中国男性患者,该患者在过去一年中出现间歇性无力,并因突发性肢体瘫痪2天入院。最终诊断为原发性醛固酮增多症伴有低钾性横纹肌溶解综合征。通过回顾相关的中英文文献,我们注意到自1978年以来只有少数案例发表。排除不相关文献后,我们总结并分析了43例原发性醛固酮增多症伴低钾性横纹肌溶解综合征患者。所有患者恢复良好,随着血钾水平的正常化,大多数人血压恢复正常。一些患者仍然需要药物来控制血压。
    结论:原发性醛固酮增多症很少引起横纹肌溶解;严重低钾血症和横纹肌溶解症的发生应提示鉴别诊断原发性醛固酮增多症。早期发现和治疗对于确定患者预后至关重要。
    BACKGROUND: Hypokalemic rhabdomyolysis is a rare clinical manifestation of primary aldosteronism, making its diagnosis challenging, particularly when it becomes the primary presenting symptom. Herein, we present a case of primary aldosteronism with hypokalemic rhabdomyolysis and conduct a related literature review.
    METHODS: We report the case of a 54-year-old Chinese male patient who presented with intermittent weakness over the past year and was admitted with sudden limb paralysis for 2 days. The final diagnosis was primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. By reviewing the related Chinese and English literature, we noticed that only a few cases were published since 1978. After excluding irrelevant literatures, we summarized and analyzed 43 patients of with primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. All patients showed good recovery, with normalized blood potassium levels, and a majority achieved normalized blood pressure. Some patients still required medication for blood pressure control.
    CONCLUSIONS: Primary aldosteronism rarely causes rhabdomyolysis; the occurrence of severe hypokalemia and rhabdomyolysis should prompt consideration of primary aldosteronism in the differential diagnosis. Early detection and treatment are crucial for determining patient prognosis.
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  • 文章类型: Journal Article
    目的:在西班牙-ALDO注册中确定家族性醛固酮增多症(FH)的基因检测率,并描述FH患者的临床特征。此外,我们对FH病例的报告进行了文献综述.
    方法:一项在西班牙35家三级医院随访的原发性醛固酮增多症(PA)患者的回顾性多中心研究(SPAIN-ALDORegistry)。
    结果:纳入登记的855例PA患者中有25例(3%)接受了FH基因检测,只有24名患者有完整的结果。然而,我们发现,有57例患者符合PA基因研究的标准.这57名患者中只有8人进行了基因检测(14.0%),而在其余9例基因研究病例中进行基因研究的原因相当不同。仅在1例III型FH(KCNJ5致病性变体)中发现FH阳性结果。对文献进行了系统的回顾,确定共25篇报告FHI型患者246例;12篇报告FHII型患者72例;14篇报告FHIII型患者29例,3篇报告FHIV型患者12例。
    结论:在现实世界的临床实践中,家族性醛固酮增多症的遗传研究通常很少。因为86%符合基因研究标准的患者未在我们的队列中进行评估.然而,FH是PA的不常见原因,仅占西班牙-ALDO登记处0.2%的病例,尽管在疑似病例中,其患病率可能高达4%。
    OBJECTIVE: To determine the rate of genetic testing for familial hyperaldosteronism (FH) in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed.
    METHODS: A retrospective multicenter study of primary aldosteronism (PA) in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry).
    RESULTS: Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available in only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 9 genetically studied cases were quite heterogeneous. A positive result for FH was found only in one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I; 12 articles reporting 72 patients with FH type II; 14 articles reporting 29 cases of FH type III and 3 articles reporting 12 patients with FH type IV.
    CONCLUSIONS: The genetic study of familial hyperaldosteronism is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases might be studied.
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  • 文章类型: Journal Article
    关于原发性醛固酮增多症(PA)和原发性高血压(EH)患者的代谢相关疾病仍存在争议。采用系统评价和荟萃分析探讨代谢综合征(MS)患病率及PA和EH相关指标。PubMed,Embase,搜索了从开始到2023年12月的WebofScience和Cochrane中央对照试验登记册,以寻找合格的研究。Meta分析采用ReviewManager5.3和STATA15.1软件进行。共纳入12项研究,揭示PA和EH在MS患病率中没有显着差异(1.27[0.92,1.76],p=0.14)具有较高的异质性(I2=68%,p=0.0002),虽然它变得显著不同(1.45[1.17,1.81],p=0.0008)和较低的异质性(I2=26%,通过亚组分析,超重或肥胖的患者中p=0.19)。收缩压较高(2.99[0.67,5.31],p=0.01;I2=43%,p=0.06)和舒张压(2.10[0.82,3.38],p=0.001;I2=36%,p=0.11)具有较低的异质性,PA组甘油三酯较低,异质性较高(-0.23[-0.37,-0.09],p=0.001;I2=76%,观察到p<0.0001)。其他指标无显著性差异。这项研究表明,超重或肥胖的PA患者中MS的患病率更高。然而,在这些体重正常的患者中,情况不同。PA与糖脂代谢的关系有待进一步研究。
    It remained debates on metabolic-related disorders in patients with primary aldosteronism (PA) and essential hypertension (EH). A systematic review and meta-analysis was conducted to explore the prevalence of metabolic syndrome (MS) and the related indicators in PA and EH. PubMed, Embase, Web of Science and the Cochrane Central Register of Controlled Trials from their commencement to December 2023 were searched for eligible studies. The meta-analysis was performed by Review Manager 5.3 and STATA 15.1 software. A total of 12 studies were included, revealing that there was no significant difference between PA and EH in the prevalence of MS (1.27[0.92, 1.76], p = 0.14) with higher heterogeneity (I2 = 68%, p = 0.0002), while it became significant different (1.45[1.17, 1.81], p = 0.0008) and lower heterogeneity (I2 = 26%, p = 0.19) in patients who were overweight or obese by subgroup analysis. Higher systolic blood pressure (2.99[0.67, 5.31], p = 0.01; I2 = 43%, p = 0.06) and diastolic blood pressure (2.10[0.82, 3.38], p = 0.001; I2 = 36%, p = 0.11) with lower heterogeneity, and lower triglyceride in PA group with higher heterogeneity (-0.23[-0.37, -0.09], p = 0.001; I2 = 76%, p < 0.0001) were observed. No significant difference was found in other indicators. This study showed a higher prevalence of MS in patients who were overweight or obese with PA. However, it was not the same in these patients who were in normal weight. More researches were needed to explore the relationship between PA and metabolism of glucose and lipid.
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  • 文章类型: Journal Article
    背景:原发性醛固酮增多症(PA)是继发性高血压最常见的可治疗和潜在可治愈的原因。鉴于心血管并发症的风险增加,由初级保健医生(PCPs)进行及时诊断和管理很重要,但是初级保健的筛查率很低。我们的目的是确定影响PCP中PA筛查行为的因素。
    方法:在16/08/22和09/08/23之间对7个数据库进行严格的范围审查,以调查PA筛查实践。如果他们的研究的一个方面是在初级保健中进行的,那么在过去20年中,来自同行评审文献的英文文章有资格被纳入。
    结果:总共1380个标题和摘要,筛选了61篇全文,选择20项研究进行数据提取。我们确定了影响PCPs筛查的三大类因素-患者,临床医生,和医疗保健系统。一些研究针对这些因素来提高筛查率,尽管关于实施和结果的数据很少。
    结论:意识低,准则不足,和不良检测被确定为PA筛查的主要障碍。为PCP举办有针对性的教育会议,明确的指导方针,并且可能需要更靠近诊断中心以改善初级保健中的PA检测。
    BACKGROUND: Primary aldosteronism (PA) is the most common treatable and potentially curable cause of secondary hypertension. Prompt diagnosis and management by primary care physicians (PCPs) is important given the increased risk of cardiovascular complications however screening rates are low in primary care. Our aim was to identify factors that influence screening behaviour for PA among PCPs.
    METHODS: A rigorous scoping review of seven databases between 16/08/22 and 09/08/23 was used to investigate PA screening practices. Articles written in English from peer-reviewed literature within the last 20 years were eligible for inclusion if an aspect of their study was conducted in primary care.
    RESULTS: A total of 1380 titles and abstracts, and 61 full texts were screened, with 20 studies selected for data extraction. We identified three broad categories of factors influencing screening by PCPs-the patient, the clinician, and the healthcare system. Some studies targeted these factors to improve screening rates although there is little data on implementation and outcomes.
    CONCLUSIONS: Low awareness, inadequate guidelines, and poor access to testing were identified as key barriers to PA screening. Targeted education sessions for PCPs, clear guidelines, and closer proximity to diagnostic centres may be required to improve PA detection in primary care.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Systematic Review
    背景:虽然已经报道了KCNJ5突变的醛固酮分泌腺瘤(APA)的临床特征,缺乏其临床结局的证据。我们的目的是综合现有文献中关于KCNJ5突变与APA患者的心血管和代谢结果之间的关联。
    方法:在对观察性研究的系统综述中,MEDLINE和EMBASE在2022年8月进行了搜索。两名独立作者筛选了搜索结果,并从符合条件的观察性研究中提取了数据,这些研究调查了KCNJ5突变APA和KCNJ5非突变APA之间的心血管或代谢结果。非随机干预研究中的偏倚风险用于评估纳入研究的质量。
    结果:总共筛选了573篇标题/摘要,并在文献的专家意见之后,20阅读全文,其中包括12项研究。在三项研究中,比较了KCNJ5突变的APA和KCNJ5未突变的APA之间的基线或心脏功能变化,所有研究均报道了心功能受损与KCNJ5突变状态之间的关联.在六项评估手术后高血压治愈的研究中,所有研究均表明KCNJ5突变与高血压的治愈显著相关.在质量评估中,七项研究存在严重的偏倚风险,而其余研究存在中等偏倚风险.
    结论:本系统综述提供了KCNJ5突变与原发性醛固酮增多症患者不良心血管结局之间显著关联的证据。需要进一步的研究来提高该主题的证据质量,并阐明KCNJ5突变潜在负担的潜在机制。
    BACKGROUND: While clinical features of KCNJ5-mutated aldosterone-producing adenoma (APA) have been reported, evidence of its clinical outcomes is lacking. We aimed to synthesize available literature about the associations between KCNJ5 mutation with cardiovascular and metabolic outcomes among patients with APA.
    METHODS: In this systematic review of observational studies, MEDLINE and Embase were searched through August 2022. Two independent authors screened the search results and extracted data from eligible observational studies investigating cardiovascular or metabolic outcomes between KCNJ5-mutated APAs and KCNJ5-non-mutated APAs. Risk of Bias In Non-randomized Studies of Interventions was used to assess the quality of the included studies.
    RESULTS: A total of 573 titles/abstracts were screened and after the expert opinion of the literature, full text was read in 20 titles/abstracts, of which 12 studies were included. Across 3 studies comparing the baseline or change in the cardiac function between KCNJ5-mutated APAs and KCNJ5-non-mutated APAs, all studies reported the association between impaired cardiac functions and KCNJ5 mutation status. Among 6 studies evaluating the cure of hypertension after surgery, all studies showed that KCNJ5 mutation was significantly associated with the cure of hypertension. In quality assessment, 7 studies were at serious risk of bias, while the remaining studies were at moderate risk of bias.
    CONCLUSIONS: This systematic review provided evidence of the significant association between KCNJ5 mutation and unfavorable cardiovascular outcomes in patients with primary aldosteronism. Further research is needed to improve the quality of evidence on this topic and elucidate the underlying mechanisms of the potential burden of KCNJ5 mutation.
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  • 文章类型: Journal Article
    这篇全面的综述全面探索了我们对与原发性醛固酮增多症(PA)相关的复杂心血管并发症的理解的最新进展。PA包括一系列以高血压和醛固酮的过量产生为特征的病症,其独立于肾素-血管紧张素系统起作用。鉴于其与心血管和脑血管并发症风险升高的关系,与原发性高血压(EH)患者相比,代谢综合征的发病率更高,PA的准确诊断至关重要.这篇综述深入研究了PA与心血管健康之间的复杂相互作用,并着重于导致不良心脏结局的关键病理生理机制。还检查了不同治疗方式对心血管健康的影响,提供潜在治疗方法的见解。通过强调承认PA是心血管疾病发病率的重要因素的重要性,这篇综述强调了改进筛查的必要性,早期诊断,和量身定制的管理策略,以增强患者护理并减轻心血管疾病的负担。本文提出的发现强调了PA在心血管医学背景下的日益重要,并强调了将这些见解转化为有针对性的干预措施以改善患者预后的潜力。
    This comprehensive review offers a thorough exploration of recent advancements in our understanding of the intricate cardiovascular complications associated with Primary Aldosteronism (PA). PA encompasses a spectrum of conditions characterized by hypertension and excessive production of aldosterone operating independently of the renin-angiotensin system. Given its association with an elevated risk of cardiovascular and cerebrovascular complications, as well as a higher incidence of metabolic syndrome in comparison to individuals with essential hypertension (EH), an accurate diagnosis of PA is of paramount importance. This review delves into the intricate interplay between PA and cardiovascular health and focuses on the key pathophysiological mechanisms contributing to adverse cardiac outcomes. The impact of different treatment modalities on cardiovascular health is also examined, offering insights into potential therapeutic approaches. By highlighting the significance of recognizing PA as a significant contributor to cardiovascular morbidity, this review emphasizes the need for improved screening, early diagnosis, and tailored management strategies to both enhance patient care and mitigate the burden of cardiovascular diseases. The findings presented herein underscore the growing importance of PA in the context of cardiovascular medicine and emphasize the potential for translating these insights into targeted interventions to improve patient outcomes.
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  • 文章类型: Review
    背景:肾上腺静脉采样(AVS)用于区分单侧和双侧醛固酮分泌过多是原发性醛固酮增多症(PA)的原因。单侧疾病采用肾上腺切除术和双侧分泌过多的药物治疗。
    方法:我们于2013年7月至2022年6月对接受PA肾上腺切除术的成年患者进行了单机构回顾性队列研究。评估了影像学发现与AVS的一致性。使用Mann-WhitneyU和卡方Fisher精确进行统计分析。通过三重方法搜索策略进行文献综述。
    结果:21例患者因PA行AVS和肾上腺切除术。两名患者没有影像学发现,19例患有腺瘤。对于图像定位的患者,AVS在九点是一致的,四个不和谐,六个人中没有诊断。对于发现不一致的患者,年龄范围为35.8~72.4岁,而一致的患者年龄范围为49.8~71.7岁。成像结果与AVS之间的总体不一致率为40%.醛固酮水平与一致性相关,中位数为52ng/dL,如果不一致则为26ng/dL(P=0.002)。整个队列的抗高血压药物从三种药物(四分位数范围2-4)的中位数到一种药物(四分位数范围1-2)的中位数显着减少,P<0.001。
    结论:在这个队列中,40%的选择性AVS患者的影像学和AVS结果不一致。醛固酮水平与一致性相关。随着两种抗高血压药的中位减少,高血压得到了显着改善。我们的结果支持AVS在所有PA肾上腺切除术候选人中的表现。
    BACKGROUND: Adrenal venous sampling (AVS) is used to distinguish unilateral from bilateral aldosterone hypersecretion as a cause of primary aldosteronism (PA). Unilateral disease is treated with adrenalectomy and bilateral hypersecretion managed medically.
    METHODS: We performed a single institution retrospective cohort study of adult patients undergoing adrenalectomy for PA from July 2013 to June 2022. Concordance of imaging findings with AVS was evaluated. Statistical analysis was performed with Mann-Whitney U and chi-squared Fisher\'s exact. Literature review performed via triple method search strategy.
    RESULTS: Twenty-one patients underwent AVS and adrenalectomy for PA. Two patients did not have imaging findings and 19 were localized with an adenoma. For patients with image localization, AVS was concordant in nine, discordant in four, and nondiagnostic in six. For patients with discordant findings, age range was 35.8 to 72.4 y compared with concordant patient age range of 49.8 to 71.7 y. Overall discordance between imaging results and AVS was 40%. The aldosterone level was associated with concordance with a median of 52 ng/dL compared with 26 ng/dL if discordant (P = 0.002). There was a significant reduction in antihypertensive medications for the entire cohort from a median of three medications (interquartile range 2-4) to 1 medication (interquartile range 1-2), P < 0.001.
    CONCLUSIONS: In this cohort, 40% of patients with selective AVS had discordant imaging and AVS results. Aldosterone level was associated with concordance. Hypertension was significantly improved with a median decrease of two antihypertensives. Our results support performance of AVS on all candidates for adrenalectomy for PA.
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  • 文章类型: Case Reports
    一名26岁的妇女在食用富含碳水化合物的食物后不久进行了激烈的交谈,突然意识丧失,呼吸停止;她立即被复苏。严重的低钾血症变得明显,被认为引起了致命的心律失常。她被诊断出患有产生左醛固酮的腺瘤,并在部分肾上腺切除术后获得缓解。原发性醛固酮增多症经常并发低钾血症;然而,低钾血症引起的致死性心律失常很少见。临床医生应该认识到原发性醛固酮增多症可能导致明显健康的个体猝死;因此,早期诊断和适当治疗至关重要。
    A 26-year-old woman experienced sudden loss of consciousness with respiratory arrest while engaged in a heated conversation shortly after consuming a carbohydrate-rich meal; she was resuscitated immediately. Severe hypokalemia became evident and was deemed to have caused lethal arrhythmia. She was diagnosed with a left aldosterone-producing adenoma and achieved remission following partial adrenalectomy. Primary aldosteronism is frequently complicated by hypokalemia; however, hypokalemia-induced lethal arrhythmias are rare. Clinicians should recognize that primary aldosteronism can potentially cause sudden death in apparently healthy individuals; hence, an early diagnosis and proper treatment are critical.
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