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目的分析SCN4A基因新突变导致的正常钾和低钾性周期性瘫痪共存一家系临床特点。方法对一家系所有患者的临床资料进行详细分析,并应用DNA序列分析方法检测其中包括先证者在内的3例患者SCN4A基因24个外显子的突变情况。结果本家系为常染色体显性遗传,共有5例患者,其中男3例、女2例,发病年龄9~34岁。1例患者为正常钾性周期性瘫痪,3例患者为低钾性周期性瘫痪,1例发作时血钾水平不详;3例患者均存在SCN4A基因G515R突变。结论 SCN4A基因G515R新突变在同一家系内可导致低血钾性和正常血钾性周期性瘫痪共存。
Objective To analyze the clinical characteristics of a family with normal potassium and hypokalemic periodic paralysis caused by a new mutation of SCN4A gene. Methods The clinical data of all the patients in one pedigree were analyzed in detail. DNA sequence analysis was used to detect the mutations of 24 exons of SCN4A gene in 3 patients, including probands. Results The family of autosomal dominant inheritance, a total of 5 patients, including 3 males and 2 females, the age of onset of 9 to 34 years old. One patient had normal potassium periodic paralysis, three patients had hypokalemic periodic paralysis, and one patient had no serum potassium level at the time of attack. All three patients had G515R mutation of SCN4A gene. Conclusion The novel mutation of G515R in SCN4A gene may cause the coexistence of hypokalemia and normal hyperkalemic periodic paralysis in the same pedigree.