Gadalla Karima, Anastasopoulou Catherine
University of Southampton
Jefferson Einstein Medical Center
Hypokalemic periodic paralysis (HypoPP) is a rare disorder characterized by episodic severe muscle weakness, often triggered by strenuous exercise or a high-carbohydrate diet. Patients with HypoPP experience a sudden onset of generalized or focal flaccid paralysis associated with low blood serum potassium levels (hypokalemia), which can last for several hours to days. The majority of HypoPP cases are familial. The familial form of HypoPP is a rare disorder resulting from mutations in either the voltage-gated calcium or sodium ion channels, predominantly affecting skeletal muscle cells. Acquired cases of HypoPP are associated with hyperthyroidism.
低钾性周期性麻痹(hypoPP)是一种由骨骼肌离子通道突变引起的罕见疾病,主要影响钙通道或钠通道。低钾性周期性麻痹的特征是发作性严重肌无力,通常由剧烈运动或高碳水化合物饮食引发。低钾性周期性麻痹患者会突然出现全身性或局灶性弛缓性麻痹,伴有血清钾水平降低(即低钾血症),这种情况可持续数小时后自行缓解。大多数低钾性周期性麻痹病例是遗传性或家族性的。家族性低钾性周期性麻痹是一种罕见的通道病,由钙通道或钠通道突变引起,主要影响骨骼肌细胞。也有后天性低钾性周期性麻痹病例被发现,且与甲状腺功能亢进有关。1994年,尤尔卡特 - 罗特等人确定了低钾性周期性麻痹的致病突变,具体是在某个基因中。