PDF(Pubmed)
Abstract：
Hypokalemic periodic paralysis (HypoPP) is a rare autosomal dominant disease caused by mutations in either calcium or sodium transmembrane voltage-gated ion channels of skeletal muscle or endoplasmic reticulum. Most cases of HypoPP are associated with a mutation in the gene encoding a calcium channel, the CACNA1S gene. Mutations in the channels create leakage currents that disrupt resting potential and depolarize the muscle fiber resulting in transient flaccid paralysis and low extracellular potassium (K+). Patients experience episodes of muscle paralysis typically provoked by exertion and diet. Treatment focuses on the prevention of such episodes with carbonic-anhydrase inhibitors or potassium-sparing diuretics as well as to treatment of acute episodes with oral K+ supplementation. Due to the rarity of the disease, the literature surrounding the disease and pharmacological management is limited. We present a case of two adolescent brothers who present with a confirmed diagnosis of periodic episodes of paralysis and are seeking treatment. Both brothers experience paralytic episodes provoked by acute changes in diet and exercise. However, the lack of literature and treatment guidelines surrounding the disease emphasizes the importance of documenting cases and the effectiveness of treatment outcomes. Additionally, it reminds providers to keep HypoPP on the differential when faced with a young patient experiencing paralytic episodes.
摘要：
低钾性周期性麻痹（HypoPP）是一种罕见的常染色体显性疾病，由骨骼肌或内质网的钙或钠跨膜电压门控离子通道突变引起。大多数HypoPP病例与编码钙通道的基因突变有关，CACNA1S基因.通道中的突变会产生泄漏电流，从而破坏静息电位并使肌纤维去极化，导致暂时性弛缓性麻痹和低细胞外钾（K）。患者经历通常由劳累和饮食引起的肌肉麻痹发作。治疗的重点是用碳酸酐酶抑制剂或保钾利尿剂预防此类发作，以及口服钾补充剂治疗急性发作。由于这种疾病的稀有性,有关该疾病和药物治疗的文献有限.我们介绍了一例两名青少年兄弟，他们被确诊为周期性瘫痪并正在寻求治疗。两兄弟都经历了由于饮食和运动的急性变化而引起的麻痹发作。然而,缺乏有关该疾病的文献和治疗指南强调了记录病例和治疗结果有效性的重要性.此外,它提醒提供者在面对经历麻痹发作的年轻患者时，保持HypoPP的差异。
