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 WNK1 in 1 family and a rare CUL3 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.

中文翻译：

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转诊至三级高血压病房的 5100 例患者的高钾血症和家族性高钾血症高血压的患病率。


背景 高钾血症是一种常见的电解质改变，其患病率差异很大，具体取决于采用的临界值、环境（住院患者与门诊患者）以及研究人群的特征。家族性高钾血症性高血压 （FHH） 是高血压、高钾血症和高氯血症性代谢性酸中毒的罕见原因。方法 在这项回顾性观察研究中，我们调查了 5100 例转诊动脉高血压患者的高钾血症患病率 （血清 K+ >5.2 mmol/L，2 次重复测量） 、潜在原因和相关的心血管风险概况。结果 总体而言，374 例 （7.3%） 患者患有高钾血症。这与已知会增加 K+ 水平 （74.6%） 、慢性肾病 （33.7%） 或两者 （24.3%） 的药物有关。在 60 例不明原因高钾血症患者中，3 例表现出提示 FHH 的临床和生化表型，其中 2 例 （整个队列中为 0.04%）得到遗传证实。在不明原因的高钾血症患者中，FHH 患病率上升至 3.3%，如果血清 K+>5.8 mmol/L，则高达 29% （2/7）。FHH 的遗传原因是影响 1 个家族中 WNK1 酸性基序的错义变异和另一个家族中罕见的 CUL3 剪接变异，其功能意义通过微型基因测定得到证实。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之间存在显着关联，与潜在的混杂因素无关。结论 高血压患者高钾血症的识别具有预后意义。及时诊断 FHH 对于有效管理高血压、通过量身定制的治疗纠正电解质失衡和遗传咨询非常重要。