摘要
回顾性分析2017年12月7日杭州市第一人民医院内分泌科收治的1例Liddle综合征患者临床资料。临床表现为高血压、严重低血钾以及低醛固酮血症,采用高通量测序法寻找与血钾代谢相关的36个基因所有外显子的突变位点,直接测序法对患者及其父母加以验证。基因测序结果显示,SCNN1B基因13号外显子第584密码子1751C-T,氨基酸由丙氨酸变为缬氨酸(A-V),确诊为Liddle综合征。复习万方数据库和中国知网1998年至2018年6月经基因分析确诊为Liddle综合征的9篇文献11个家系33例患者资料,患者均有高血压,87%(28/32)合并低血钾,85%(23/27)伴有低醛固酮血症,21例患者发病年龄<20岁,其中3例出现脑卒中。所有患者使用限盐加用阿米洛利或者氨苯蝶啶治疗后血压降至正常水平。突变位点以错义突变居多(7/11)。提示Liddle综合征可治疗和控制,早发现、早诊断、早治疗可避免严重并发症发生。
The clinical data and the genetic study results of a patient with Liddle syndrome were reported.The genomic DNA of peripheral blood mononuclear cells was extracted and the mutation sites of all the exons in 36 genes related to hypokalemia were screened by high-throughput sequencing.Genetic validation of patients and their parents was performed by direct sequencing.The patient presented with severe hypokalemia,low aldosterone and hypertension.The results of gene sequencing showed that the SCNN1B gene exon 13 584 codon 1751C-T,and the corresponding encoded amino acid changed from alanine to valine(A-V).Eleven families and 33 cases of Liddle syndrome diagnosed by genetic analysis were reported in Chinese literature from 1998 to June 2018.The literature review showed that all patients had hypertension,87%(28/32)had hypokalemia and 85%(23/27)had low aldosterone.The onset age of 21 patients was<20 year,among whom cerebral stroke occurred in 3 patients.The normal blood pressure can be achieved by low-salt diet and administration of amiloride or triamterene.The most common mutations were missense mutations(7/11).Liddle syndrome is a controllable and treatable disease,early detection,diagnosis and treatment can avoid serious complications.
作者
章晓芳
詹宇红
张楚
俞灵莺
Zhang Xiaofang;Zhan Yuhong;Zhang Chu;Yu Lingying(Department of Endocrinology and Metabolism,Hangzhou First People′s Hospital Affiliated to Zhejiang University School of Medicine,Hangzhou 310006,China)
出处
《中华全科医师杂志》
2019年第4期372-375,共4页
Chinese Journal of General Practitioners
