Department of Neurology, First Affiliated Hospital of School of Medicine, Zhejiang University, Hangzhou, China.
Muscle Nerve. 2013 Jan;47(1):41-5. doi: 10.1002/mus.23460. Epub 2012 Sep 27.
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant skeletal muscle ion channelopathy. Sex hormones are natural ion channel regulators. Different sex hormones have different effects on ion channels. A comparison of the penetrance and phenotype between males and females with HypoPP mutations should aid in proving that sex hormones play different roles in HypoPP and also provide the basis for the development of therapies against HypoPP.
We identified all mutation carriers in 4 HypoPP families using PCR sequencing techniques. All patients underwent clinical investigation.
There were 8 men and 7 women mutation carriers in the 4 families. Male carriers had 100% penetrance, but female penetrance was only 28.57%. The highest attack frequency was 50-150 times/year for the men, whereas it was 30-50 times/year for the women. The attacks disappeared during pregnancy.
The penetrance and attack frequency were lower in women than in men with HypoPP mutations.
低钾周期性瘫痪（HypoPP）是一种常染色体显性遗传性骨骼肌离子通道病。性激素是天然的离子通道调节剂。不同的性激素对离子通道的作用不同。比较 HypoPP 突变男性和女性的外显率和表型，有助于证明性激素在 HypoPP 中发挥不同的作用，并为 HypoPP 的治疗方法的发展提供依据。
我们使用 PCR 测序技术在 4 个 HypoPP 家族中鉴定了所有的突变携带者。所有患者均接受了临床检查。
在这 4 个家族中，有 8 名男性和 7 名女性突变携带者。男性携带者的外显率为 100%，而女性携带者的外显率仅为 28.57%。男性的最高发作频率为每年 50-150 次，而女性为每年 30-50 次。发作在怀孕期间消失。
与 HypoPP 突变的男性相比，女性的外显率和发作频率较低。
