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难治性家族性低钾周期性麻痹导致心血管受损。

Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise.

机构信息

Internal Medicine, Hurley Medical Center, Flint, Michigan, USA.

Internal Medicine, Hurley Medical Center, Flint, Michigan, USA

出版信息

BMJ Case Rep. 2022 Feb 7;15(2):e246674. doi: 10.1136/bcr-2021-246674.

Abstract

Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich meals. Hypokalaemic PP has an incidence of 1 in 100 000; despite the temporal association, cardiac manifestations are exceedingly rare. We present a case of FHPP, a channelopathy presenting with severe refractory hypokalaemia. The challenges with our patient were maintaining potassium levels within normal ranges and initiating a close follow-up plan. Due to the lack of clinical guidance in our case, many aspects of care, including surveillance, medications and genetic testing, remain unaddressed. Medical management includes aggressive correction with supplements, potassium-sparing diuretics and carbonic anhydrase inhibitors. Severe cases of dysrhythmias, especially ventricular fibrillation, require electrophysiology evaluation and possible implantation of a defibrillator to prevent sudden cardiac death.

摘要

家族性低钾周期性瘫痪(FHPP)是一种罕见的神经肌肉疾病,归类于周期性瘫痪(PP),其特征是肌肉无力发作。常见的诱因包括剧烈运动、禁食或摄入富含碳水化合物的食物。低钾性 PP 的发病率为每 10 万人中有 1 例;尽管存在时间上的关联,但心脏表现极为罕见。我们报告了 1 例 FHPP 病例,这是一种表现为严重难治性低钾血症的通道病。我们的患者面临的挑战是将血钾水平维持在正常范围内并制定密切的随访计划。由于在我们的病例中缺乏临床指导,许多方面的护理,包括监测、药物治疗和基因检测,仍未得到解决。医疗管理包括积极补充、保钾利尿剂和碳酸酐酶抑制剂的纠正。严重的心律失常,特别是心室颤动,需要电生理评估和可能植入除颤器以预防心源性猝死。

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