伴基因突变的低钾血症诊断学特征分析  

Diagnostic characteristics of hypokalemia with gene mutations

作　　者：王倩 王永萍 李新培 杨成艳 许慧[3] 孙凤娟[3] 刘亚平[3,4] 无 Wang Qian;Wang Yongping;Li Xinpei;Yang Chengyan;Xu Hui;Sun Fengjuan;Liu Yaping(College of Clinical Medicine,Jining Medical University,Jining 272013,China;College of Clinical Medicine,Shandong First Medical University,Taian 271099,China;Department of Endocrinology,the First People′s Hospital of Jining,Jining 272002,China;Cisen Pharmaceutical Co.,Ltd.,Jining 272000,China;School of Pharmaceutical Sciences,Shandong University,Jinan 250012,China)

机构地区：[1]济宁医学院临床医学院,272013 [2]山东第一医科大学临床医学院,泰安271099 [3]济宁市第一人民医院内分泌科,272002 [4]辰欣药业股份有限公司,济宁272000 [5]山东大学药学院,济南250012

出　　处：《中华诊断学电子杂志》2023年第2期115-119,共5页Chinese Journal of Diagnostics(Electronic Edition)

摘　　要：目的探讨Liddle综合征、Gitelman综合征的临床特点、诊断思路及基因检测的必要性。方法回顾性分析济宁市第一人民医院内分泌科收治的2例低钾血症患者临床资料,完善相关检查及基因检测。结果患者1肢体乏力进行性加重,血钾2.2 mmol/L,血钠148 mmol/L,血压最高178/110 mmHg(1 mmHg=0.133 kPa),父母均患高血压病。基因检测发现患者携带SCNN1B基因c.1783_1784insT(p.Ala595ValfsTer13)移码突变,确诊为Liddle综合征;患者2发作性四肢抽搐,血钾2.74 mmol/L,血镁0.64 mmol/L,血压97/75 mmHg,基因检测发现SLC12A3基因c.536T>A(p.Val179Asp)、c.1763C>T(p.Ala588Val)错义突变,确诊为Gitelman综合征。结论Liddle综合征、Gitelman综合征是临床上导致低钾血症的罕见疾病,其临床表现有时并不明显,基因检测是重要确诊手段,并且有助于靶向治疗。本研究通过基因检测发现SCNN1B、SLC12A3基因新的突变位点。Objective To discuss the clinical features,diagnostic ideas,and the need for genetic testing of Liddle syndrome and Gitelman syndrome.Methods Retrospectively analyzing 2 patients with hypokalemia in Endocrinology Department of the First People′s Hospital of Jining,including clinical manifestations,relevant examination improvement,and gene detection.Results Patient 1 had progressive aggravation of limb weakness,serum potassium 2.2 mmol/L,serum sodium 148 mmol/L,the highest blood pressure 178/110 mmHg(1 mmHg=0.133 kPa),and both parents suffered from hypertension.Gene detection showed that the patient had a frameshift mutation of SCNN1B gene c.1783_1784insT(p.Ala595ValfsTer13).The patient was diagnosed with Liddle syndrome.Patient 2 had paroxysmal limb convulsions,serum potassium 2.74 mmol/L,serum magnesium 0.64 mmol/L,and blood pressure 97/75 mmHg.Gene detection revealed missense mutations of SLC12A3 gene c.536T>A(p.Val179Asp),c.1763C>T(p.Ala588Val),and the patient was diagnosed with Gitelman syndrome.Conclusions Liddle syndrome and Gitelman syndrome are rare diseases that lead to hypokalemia clinically,and their clinical manifestations are sometimes not obvious.Gene detection is an important diagnostic tool that aids in targeted treatment.Gene detection was used in this study to discover new mutant sites in the SCNN1B and SLC12A3 genes.

关 键 词：LIDDLE综合征 GITELMAN综合征 低钾血症 基因突变 

分 类 号：R44[医药卫生—诊断学]