Park Yang Hee, Kim June Bum
Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea.
Korean J Pediatr. 2010 Oct;53(10):909-12. doi: 10.3345/kjp.2010.53.10.909. Epub 2010 Oct 31.
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.
家族性低钾性周期性麻痹是一种常染色体显性通道病，其特征为发作性肌无力伴低钾血症。呼吸肌和心肌通常不受影响，但我们报告了一例低钾性周期性麻痹家族的非典型病例，其中受累成员在严重发作时频繁出现呼吸功能不全。分子分析显示钠通道基因SCN4A存在杂合性c.664 C>T转换，导致通道蛋白中出现Arg222Trp突变。此处描述的患者呈现出不同寻常的临床特征，包括严重的呼吸表型、女性携带者不完全显性以及对药物的不同反应。
