检索结果-南通市图书馆

Novel heterozygous missense mutation of slc12a3 gene in Gitelman syndrome: A case report

在线全文

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2019年第12期7卷 1522-1528页

作者： Cheng-Lin Wang Department of Endocrinology Shanxi Provincial People’s Hospital Affiliated to Shanxi Medical University

BACKGROUND To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. CASE SUMMARY The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the slc12a3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease. CONCLUSION This is the first report of a new pathogenic mutation in slc12a3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

关键词： Gitelman syndrome slc12a3 High-throughput sequencing Bioinformatics analysis Case report

Gitelman syndrome caused by a rare homozygous mutation in the slc12a3 gene:A case report

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2020年第18期8卷 4252-4258页

作者： Ri-Zhen Yu Mao-Sheng Chen Department of Nephrology Division Zhejiang Provincial People’s HospitalPeople’s Hospital of Hangzhou Medical CollegeHangzhou 310014Zhejiang ProvinceChina

BACKGROUND Gitelman syndrome(GS)is an unusual,autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis,hypomagnesemia and *** is caused by mutations in the solute carrier family 12 member 3(slc12a3)gene resulting in disordered function of the thiazidesensitive NaCl *** date,many types of mutations in the slc12a3 gene have been discovered that trigger different clinical ***,gene sequencing should be considered before determining the course of treatment for GS *** SUMMARY A 55-year-old man was admitted to our department due to hand numbness and *** tests after admission showed hypokalemia,metabolic alkalosis and renal failure,all of which suggested a diagnosis of *** sequencing of DNA extracted from the patient’s peripheral blood showed a rare homozygous mutation in the slc12a3 gene(NM_000339.2:chr16:56903671,Exon4,c.536T>A,***179Asp).This study reports a rare homozygous mutation in slc12a3 gene of a Chinese patient with *** Genetic studies may improve the diagnostic accuracy of Gitelman syndrome and improve genetic counseling for individuals and their families with these types of genetic disorders.

关键词： Gitelman syndrome Hypokalemia slc12a3 Homozygous Rare mutation Case report

Novel compound heterozygous mutation of slc12a3 in Gitelman syndrome co-existent with hyperthyroidism:A case report and literature review

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2022年第21期10卷 7483-7494页

作者： Yong-Zhang Qin Yan-Ming Liu Yang Wang Cong You Long-Nian Li Xue-Yan Zhou Wei-Min Lv Shi-Hua Hong Li-Xia Xiao Department of Endocrinology The First Affiliated Hospital of Gannan Medical UniversityGanzhou 341000Jiangxi ProvinceChina Department of Endocrinology The First People’s Hospital of Nankang DistrictGanzhou 341400Jiangxi ProvinceChina Department of Dermatology and Venereology The First Affiliated Hospital of Gannan Medical UniversityGanzhou 341000Jiangxi ProvinceChina

BACKGROUND Gitelman syndrome(GS)is a rare inherited autosomal recessive tubulopathy,characterized clinically by hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis,and is caused by an inactivating mutation in *** is prone to misdiagnosis when occurring simultaneously with *** is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia,which is difficult to *** SUMMARY A female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 ***,the patient’s serum potassium level remained low despite sufficient potassium replacement and remission of *** was confirmed by whole exome and Sanger *** sequencing revealed compound heterozygous mutations of c.488C>T(***163Met),c.2612G>A(***871His),and c.1171_1178dupGCCACCAT(***393fs)in *** molecular modeling was performed to predict the effects of the identified missense *** three mutations cause changes in protein structure and may result in abnormal protein *** previously reported cases of GS coexisting with autoimmune thyroid disease are *** We have identified a novel compound heterozygous mutation in *** present study provides new genetic evidence for GS.

关键词： slc12a3 Gitelman syndrome Hyperthyroidism Hypokalemia Gene sequencing Case report

A case of Gitelman syndrome with homozygous slc12a3 deletion presenting with epilepsy

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Acta Epileptologica 2023年第4期6卷 272-279页

作者： Ying Wang Wenting Huang Jia Li Shumin Mao Wenqiang Fang Huiqin Xu Department of Neurology The First Affiliated Hospital of Wenzhou Medical UniversityWenzhouZhejiangChina

Background Gitelman syndrome(GS)is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia,metabolic alkalosis,hypomagnesemia,and *** presentation We report a rare case of GS with homozygous loss of slc12a3 presenting with *** patient was a 21-year-old female who sought medical attention for *** condition primarily manifested as epilepsy,diarrhea,and weakness of *** genetic analysis,we confirmed the diagnosis of this case and formulated a comprehensive approach for its *** This case report extends the clinical symptoms of GS and provides a complete family of GS as a reference for subsequent studies.

关键词： Gitelman syndrome Epilepsy Hypokalemia slc12a3

slc12a3基因新突变致Gitelman综合征伴代谢综合征一例报道

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

中国糖尿病杂志 2020年第8期28卷 625-628页

作者：聂冬英楼雪勇金华市中心医院内分泌科 321000

回顾性分析1例Gitelman综合征(GS)伴MS患者临床资料,对患者及其父母进行相关基因测序。slc12a3_ex14 c.1717G>C(p.G573R)推测为slc12a3基因新突变,分析GS伴MS的可能机制。

关键词： Gitelman综合征低钾血症代谢综合征 slc12a3

slc12a3基因杂合突变致青少年Gitelman综合征

在线全文

学校读者我要写书评

暂无评论

肾脏病与透析肾移植杂志 2019年第2期28卷 194-197,180页

作者：窦为娟王瑞风沈业琴李洁杜宏东部战区总医院内分泌科

18岁男性,病程3年,以乏力症状起病,辅助检查提示低钾血症、代谢性碱中毒、低镁血症、低氯血症、低尿钙、高尿钾,高肾素、醛固酮水平,基因检测发现slc12a3基因突变新位点,诊断为Gitelman综合征,予以补钾治疗后乏力症状缓解。

关键词： Gitelman综合征低血钾代谢性碱中毒 slc12a3

Gitelman综合征合并甲状腺疾病：两例患者slc12a3基因分析

在线全文

学校读者我要写书评

暂无评论

中华内分泌代谢杂志 2010年第5期26卷 395-398页

作者：董晖郎艳华邵泽平李林邵乐平青岛大学医学院附属医院肾脏内科 266003 青岛大学医学院附属医院成人注射室 266003 诸城市人民医院西区内科

对合并甲状腺疾病的2例Gitelman综合征可疑患者及家庭成员进行slc12a3基因分析，证实2例患者均为slc12a3基因的复合杂合突变，3个新突变位点被发现。本研究提示Gitelman综合征有时与其他低血钾相关的疾病，如甲亢并存，临床应注意鉴别。

关键词： Gitelman综合征 Graves病低血钾突变 slc12a3

slc12A1、slc12a3和ENaC基因多态性及生活行为因素与原发性高血压的关联研究

在线全文

学校读者我要写书评

暂无评论

SLC12A1、SLC12A3和ENaC基因多态性及生活行为因素与原发性高血压...

作者：刘宇超石河子大学

学位级别：硕士

目的：探讨环境因素、slc12A1、slc12a3和ENaC基因多态性与中国南方汉族人群血压水平及原发性高血压（Essential hypertension, EH）患病之间的关联性，进而分析基因与环境间的交互作用。方法：本研究为病例-对照研究，选择浙江省宁波... 详细信息

目的：探讨环境因素、slc12A1、slc12a3和ENaC基因多态性与中国南方汉族人群血压水平及原发性高血压（Essential hypertension, EH）患病之间的关联性，进而分析基因与环境间的交互作用。方法：本研究为病例-对照研究，选择浙江省宁波市鄞州区作为研究现场，采用整群随机抽样的方法，抽取年龄≥40岁、无血缘关系的汉族常住居民作为研究对象，对他们进行流行病学调查、体格检查和血样采集，调查内容主要包括一般人口学资料、生活行为方式、饮食习惯等，体格检查主要包括身高、体重、腰围、血压等，采集的血样主要进行血脂四项检测和基因分型检测。运用卡方检验检测各基因型的等位基因频率是否符合Hardy-Weinberg遗传平衡定律，并比较各基因型频率在EH组与对照组间的分布差异;采用方差分析比较各基因型与收缩压（Systolic blood pressure，SBP）和舒张压（Diastolic blood pressure，DBP）水平的关系，采用多元线性回归模型分析生活行为因素与血压水平之间的关系，运用logistic回归模型分析各基因多态性及生活行为因素与EH之间的关联性，应用软件Haploview进行基因位点间的连锁不平衡分析，运用R软件中的***程序包进行单体型分析，采用叉生分析的方法对有意义的基因与环境因素进行交互作用分析。结果：（1）人群血压水平与生活行为因素的关联性：年龄与SBP和DBP均有相关性，超重、肥胖、腹型肥胖、TC、TG、LDL-C异常、饮酒、食盐过量、油炸食品及奶油蛋糕食用过量会升高血压，而大量食用蔬菜、鱼类及适量运动则会降低血压水平。（2）EH与生活行为因素的关联性：多因素分析结果显示，EH的主要危险因素为年龄、腹型肥胖、超重和肥胖、血脂异常、饮酒和食盐过量。按年龄和性别分层后结果显示，60岁以上人群应该注意限制饮酒、控制体重及腰围，尤其是腰围;男性应该更注意控制食盐量和腰围，女性应该更加注意禁烟和控制体重。（3）人群血压水平与基因多态性的关系：EH组的DBP在slc12a3基因rs11643718位点的GG、GA和AA三个基因型中分别为75.27±8.78mmHg、74.59±7.78mmHg和74.36±7.76mmHg，AA和AG基因型EH者的平均DBP水平与GG基因型比较均有所降低;但在对照组中却未见任何相关性。（4）人群EH患病情况与遗传因素的关联性：在男性人群中slc12a3基因的rs11643718位点GG、AG、AA基因型在EH组的分布频率分别为85.6%、14.4%和0%，在对照组的分布频率分别为79.8%、19.3%和0.9%，各基因型在EH组和对照组间的分布有显著性差异（P=0.009）;slc12a3基因的rs3812963位点GG、AG、AA基因型在EH组的分布频率分别为51.7%、42.9%和5.4%，在对照组的分布频率分别为50.4%、39.9%和9.7%，各基因型在两组间的分布也有显著性差异（P=0.031）;在全人群中，携带slc12a3基因rs11643718位点AA基因型和A等位基因与EH相关联（P=0.048，OR=0.228vs P=0.040，OR=0.786）;性别分层后，携带slc12a3基因rs11643718位点AG基因型和A等位基因（P=0.028，OR=0.693vs P=0.045，OR=0.689）、携带slc12a3基因rs3812963位点AA基因型（P=0.017，OR=0.498）与男性EH相关联;（5）单体型与EH的关联分析：slc12A1基因rs8025278（T/G）、rs12438818（T/A）位点的G-A单体型（P=0.015，OR=1.351）、slc12a3基因的rs11643718（G/A）、rs5805（T/C）、rs3712963（G/A）、rs4784733（T/C）位点的G-T-G-C单体型（P=0.046，OR=0.714）与男性EH有显著关联性;SCNN1A基因rs3782724（A/G）、rs2228576（G/A）位点的A-G单体型与女性EH有显著关联性（P=0.037，OR=1.270）。（6）基因多态性与环境因素的交互作用：rs11643718位点GG基因型与腹型肥胖（P=0.042，OR=4.846）、超重和肥胖（P=0.043，OR=6.739vs P=0.013，OR=9.528）、吸烟（P=0.044，OR=4.494）、饮酒（P=0.040，OR=4.567）、食盐量6-9g/天和≥9g/天（P=0.013，OR=6.996vs P=0.006，OR=9.000）间具有交互作用，能够增加患EH的风险。携带rs3812963位点G等位基因与腹型肥胖（P＜0.001，

关键词：原发性高血压 slc12A1 slc12a3 SCNN1A SCNN1B SCNN1G 环境因素交互作用

slc12a3基因突变导致的血镁正常型Gitelman综合征1例及文献复习

同方学位论文库评论

在线全文

同方学位论文库

学校读者我要写书评

暂无评论

中国临床研究 2020年第11期33卷 1557-1559页

作者：刘隽王瑞风窦为娟梁菁菁杜宏东部战区总医院内分泌科江苏南京210016

目的Gitelman综合征临床表现以低钾血症、低镁血症为主,血镁正常病例较少,本文结合病例对血镁正常的Gitelman综合征的诊断、治疗及预后进行分析、探讨。方法回顾性分析东部战区总医院内分泌科1例非典型Gitelman综合征患者的临床表现、... 详细信息

目的Gitelman综合征临床表现以低钾血症、低镁血症为主,血镁正常病例较少,本文结合病例对血镁正常的Gitelman综合征的诊断、治疗及预后进行分析、探讨。方法回顾性分析东部战区总医院内分泌科1例非典型Gitelman综合征患者的临床表现、诊治思路、治疗结局,并进行相关文献复习。结果患者经基因检测明确Gitelman综合征的诊断,予以补钾治疗后乏力症状好转,血钾上升。结论Gitelman综合征临床表现复杂多样,存在个体差异及特殊类型,如临床上疑似该病,应行基因检测明确诊断,及早的诊断和充分有效地治疗,预后较好。

关键词： Gitelman综合征低血钾血镁 slc12a3