伴有酸中毒的家族性低钾型周期性瘫痪诊疗分析  

Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis

作　　者：劳国娟[1] 王成芷 李娜[1] 黄楚霖[1] 陈映娜 肖辉盛[1] 孙侃[1] 任萌[1] LAO Guo-juan;WANG Cheng-zhi;LI Na;HUANG Chu-lin;CHEN Ying-na;XIAO Hui-sheng;SUN Kan;REN Meng(Department of Endocrinology and Metabolism,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院内分泌科,广东广州510120

出　　处：《中山大学学报（医学科学版）》2023年第3期479-484,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：广东省代谢性疾病(糖尿病)临床医学研究中心项目(2020B1111170009);广州市代谢性疾病重点实验室项目(202102100004);广东省基础与应用基础研究区域联合基金(2020A1515110963);广州市科技基础与应用基础研究项目(202102020261)。

摘　　要：【目的】探讨伴有酸中毒的家族性低钾型周期性瘫痪的诊断和治疗。【方法】分析先证者病史、临床表现、实验室检查和影像学特点,详细调查家系患病情况,应用二代测序技术检测低钾血症相关致病基因位点,对国内外相关文献进行归纳总结。【结果】明确诊断先证者为家族性低钾型周期性瘫痪,先证者的SCN4A基因有1个杂合突变,为c.2006G>A,导致氨基酸改变p.R669H。先证者的祖父、父亲和伯伯存在相同变异。【结论】伴酸中毒的家族性低钾型周期性瘫痪罕见,容易误诊为肾小管酸中毒,临床上要提高警惕。SCN4A基因c.2006G>A突变是该家系发病的分子基础。不同基因突变的临床表型存在差异,基因筛查有助诊断分型和治疗方案选择。【Objective】To investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis.【Methods】The proband′s medical history,clinical manifestations,laboratory examinations and imaging characteristics were retrospectively analyzed,and prevalence situation of family members was investigated in detail.Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis,and the relevant literatures were summarized.【Results】The proband was definitely diagnosed as familial hypokalemic periodic paralysis.There was a heterozygous mutation in the SCN4A gene of the proband,which was c.2006G>A,resulting in amino acid changes R669H.The proband′s grandfather,father and uncle shared the same variation.【Conclusions】Familial hypokalemic periodic paralysis with paroxysmal acidosis is rare,which is easily misdiagnosed as renal tubular acidosis.c 2006G>A mutation in SCN4A gene is the molecular basis of the disease in this family.The clinical phenotypes of different gene mutations are different,and gene screening is helpful for diagnosis and treatment.

关 键 词：低钾型周期性瘫痪 SCN4A基因 突变 家系报道 

分 类 号：R589.6[医药卫生—内分泌]