| 江黎晨,孙莉,刘安诺,等.先天性副肌强直 1例临床报告及基因检测分析[J].安徽医药,2022,26(1):103-106. |
| 先天性副肌强直 1例临床报告及基因检测分析 |
| A case of paramyotonia congenita: clinical report and genetic analysis |
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| DOI：10.3969/j.issn.1009-6469.2022.01.024 |
| 中文关键词: 肌强直失调症 骨骼肌钠通道基因(SCN4A基因) 低钾血症 肌无力 诊断 |
| 英文关键词: Myotonic disorders SCN4A gene Hypokalemia Muscle weakness Diagnosis |
| 基金项目:安徽省科技厅公益性联动基金( 1704F0804026)；国家级大学生创新创业训练计划创新训练项目( S202010366042) |
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| 中文摘要: |
| 目的报道 1例先天性副肌强直( PMC)病人的临床资料和基因检测结果(包括病人及其父母、姐姐)并文献复习。方法分析安徽医科大学第一附属医院内分泌科于 2019年 12月 22日收治的 1例反复发作低钾血症伴横纹肌溶解，综合征病人的临床资料(包括病史、体格检查、实验室辅助检查结果)，并完善基因全外显子组测序，同时检测该病人父母及姐姐的相关基因。查阅国内外先天性副肌强直的相关文献，总结该病的临床特点及突变基因类型。结果病人编码钠通道 α亚单位的骨骼肌钠通道基因( SCN4A基因)存在 c.3318+10(内含子 17)C>T的杂合突变，结合该病人的临床资料及基因检测结果诊断为先天性副 |
| 英文摘要: |
| Objective To report the clinical data and genetic test results (including the patient and his parents and sister) of a para-myotonia congenita(PMC) patient and review the literature.Methods The clinical data (including medical history, physical examina-tion, and laboratory auxiliary examination results) of a patient with recurrent hypokalemia and rhabdomyolysis syndrome admitted tothe Department of Endocrinology, the First Affiliated Hospital of Anhui Medical University on December 22, 2019 were analyzed. Genewhole-exome sequencing was performed, and related genes of the patient's parents and sisters were detected. Relevant domestic andforeign works on paramyotonia congenita were consulted, and the clinical characteristics and mutation gene types of the disease weresummarized.Results The patient's skeletal muscle sodium channel gene (SCN4A gene) encoding sodium channel alpha subunit had aheterozygous mutation of c.3318+10 (intron 17) C>T. Combined with the patient's clinical data and genetic testing results, the patientwas diagnosed with paramyotonia congenita. Neither his parents nor sister had mutations in the pathogenic gene, indicating that the pa-tient had sporadic paramyotonia congenita.Conclusion For patients with recurrent severe hypokalemia that are difficult to explainclinically, the possibility of rare diseases should be considered, and genetic testing and analysis of the patients and their family mem-bers should be performed as soon as possible to confirm the diagnosis and precise treatment. |
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