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5100 例转诊至三级高血压专科的患者中高钾血症和家族性高钾血症性高血压的患病率。

Prevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.

机构信息

Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences (M.T., J.B., F.V., F.R., P.M., S.M.), University of Torino, Italy.

Assistance Publique-Hôpitaux de Paris (AP-HP), Département de Génétique et Centre de Référence des Maladies Rénales Rares, Hôpital Européen Georges Pompidou, Paris, France (M.H., C.B., E.C., X.J.).

出版信息

Hypertension. 2024 Nov;81(11):2275-2285. doi: 10.1161/HYPERTENSIONAHA.124.23500. Epub 2024 Sep 4.

Abstract

BACKGROUND

Hyperkalemia is a frequent electrolyte alteration whose prevalence varies widely, depending on the adopted cutoff, the setting (inpatients versus outpatients), and the characteristics of the study population. Familial hyperkalemic hypertension (FHH) is a rare cause of hypertension, hyperkalemia, and hyperchloremic metabolic acidosis.

METHODS

In this retrospective observational study, we investigated the prevalence of hyperkalemia (serum K >5.2 mmol/L on 2 repeated measurements) in 5100 referred patients affected by arterial hypertension, the potential causes, and the associated cardiovascular risk profile.

RESULTS

Overall, 374 (7.3%) patients had hyperkalemia. This was associated with drugs known to increase K levels (74.6%), chronic kidney disease (33.7%), or both (24.3%). Among the 60 patients with unexplained hyperkalemia, 3 displayed a clinical and biochemical phenotype suggestive of FHH that was genetically confirmed in 2 of them (0.04% in the entire cohort). FHH prevalence rose to 3.3% in patients with unexplained hyperkalemia and up to 29% (2/7) if they had serum K>5.8 mmol/L. The genetic cause of FHH was a missense variant affecting the acidic motif of in 1 family and a rare splicing variant, whose functional significance was confirmed by a minigene assay, in another. Finally, we observed a significant association between hyperkalemia and the occurrence of cardiovascular events, metabolic syndrome, and organ damage, independent of potential confounding factors.

CONCLUSIONS

The identification of hyperkalemia in patients with hypertension has prognostic implications. A timely diagnosis of FHH is important for effective management of hypertension, electrolyte imbalance correction with tailored treatment, and genetic counseling.

摘要

背景

高钾血症是一种常见的电解质紊乱,其患病率因采用的切点、环境(住院患者与门诊患者)以及研究人群的特征而差异很大。家族性高钾血症性高血压(FHH)是一种罕见的高血压、高钾血症和高氯性代谢性酸中毒的病因。

方法

在这项回顾性观察性研究中,我们调查了 5100 例动脉高血压患者中高钾血症(2 次重复测量血清 K>5.2mmol/L)的患病率、潜在病因以及相关的心血管风险特征。

结果

总体而言,374 例(7.3%)患者存在高钾血症。这与已知可升高 K 水平的药物(74.6%)、慢性肾脏病(33.7%)或两者(24.3%)相关。在 60 例不明原因高钾血症患者中,有 3 例表现出提示 FHH 的临床和生化表型,其中 2 例在遗传学上得到证实(整个队列中的 0.04%)。在不明原因高钾血症患者中,FHH 的患病率上升至 3.3%,而如果血清 K>5.8mmol/L,则上升至 29%(2/7)。FHH 的遗传病因是一个影响 酸性基序的错义变体,在一个家族中,另一个是罕见的 剪接变体,其功能意义通过小基因检测得到了证实。最后,我们观察到高钾血症与心血管事件、代谢综合征和器官损伤的发生显著相关,这与潜在的混杂因素无关。

结论

在高血压患者中发现高钾血症具有预后意义。及时诊断 FHH 对于有效管理高血压、纠正电解质失衡并进行针对性治疗以及遗传咨询非常重要。

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