Liddle综合征上皮钠通道β亚单位基因突变及其临床随访研究  

Gene Mutation of Epithelial Sodium Channel in Patient with Liddle Syndrome and Clinical Follow-up Study

作　　者：李岳华[1] 杨坤璂 张莹[1] 赵青[1] 娄莹[1] 马文君[1] 张慧敏[1] 宋雷[1] 吴海英[1] 蔡军[1] 周宪梁[1] 

机构地区：[1]北京协和医学院中国医学科学院国家心血管病中心阜外医院高血压中心,北京市100037

出　　处：《中国分子心脏病学杂志》2017年第3期2086-2088,共3页Molecular Cardiology of China

基　　金：国家重点研发项目(2016YFC1300100);国家自然科学基金(81541010)

摘　　要：目的本研究旨在分析1例儿童疑似Liddle综合征的上皮细胞钠通道编码基因SCNN1B及SCNN1G的基因突变及其与临床表型的关系。方法收集1个临床疑似Liddle综合征的临床资料,提取外周血基因组DNA,采用直接测序的方法进行SCNN1B及SCN N1G基因突变的检测。同时对其父母进行相关基因检测。对确诊患者给予限盐和口服钠通道拮抗剂治疗并对其进行随访。结果对该儿童患者的SCNN1B基因检测发现了一个杂合错义突变P618L。患者父母的血压均正常,未发现携带这一突变。对SCNN1G基因的检测没有发现突变。对先证者给予限盐和口服钠通道拮抗剂治疗,治疗1个月后随访发现疗效显著且稳定。结论基因检测不仅为儿童高血压患者提供明确诊断,并且有助于患者个体化靶向治疗,疗效显著。Objective To analyze the gene mutation of Liddle syndrome. Methods A child with severe hypertension, hypokalemia and decreased aldosterone was investigated. Genomic DNA was extracted from leukocytes of peripheral blood from the patients and her parents. We screened the C-terminus of SCNNIB and SCNNIG in the index and her parents. Results The index case, a 10-year-old girl, was diagnosed with Liddle syndrome by the identification ofa missense mutation, P618L, in the PY motif of the β subunit of the epithelial sodium channel. Conclusion Based on direct DNA sequencing, we have detected a mutation which causes Liddle syndrome in a child with severe hypertension.

关 键 词：LIDDLE综合征 儿童高血压 上皮钠通道 基因突变 

分 类 号：R725.4[医药卫生—儿科]