双胎妊娠合并Gitelman综合征孕妇的妊娠结局及文献复习  

Pregnancy outcome of twin pregnancy with Gitelman syndrome:a case report and literature review

作　　者：陈甜甜 王晓东 余海燕 Chen Tiantian;Wang Xiaodong;Yu Haiyan(Department of Obstetrics and Gynecology,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院妇产科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2023年第5期559-568,共10页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：四川省自然科学基金项目(2022NSFSC0659)。

摘　　要：目的探讨双胎妊娠合并Gitelman综合征(GS)孕妇的临床诊治及妊娠结局,并进行相关文献复习。方法选取2021年9月27日,因孕龄为25^(+2)孕周时产前检查发现低钾血症,于四川大学华西第二医院产科入院治疗的1例(患者1)双胎妊娠合并GS孕妇为研究对象。采取回顾性分析方法对患者1病史、入院相关检查结果、治疗方案与转归等临床资料进行分析。分别以“Gitelman综合征”“妊娠”“Gitelman syndrome”“pregnancy”为中、英文关键词,在中国知网、万方数据知识服务平台、PubMed及Web of Science数据库中,检索妊娠合并GS相关研究文献。文献检索时间设定为2013年至2023年。总结患者1及GS相关研究文献涉及的GS孕妇临床表现、诊治方案及母儿预后。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①患者1病史、入院相关检查结果、治疗方案与转归:年龄36岁,G_(3)P_(1)^(+1),体外受精-胚胎移植术移植2枚囊胚,因常规产前检查发现其合并低钾血症(血K^(+)浓度为2.60 mmol/L)及低镁血症(血Mg^(2+)浓度为0.66 mmol/L),于孕龄为25^(+2)孕周时入院。入院检查结果提示,碱中毒(血液pH值为7.530),肾性失K^(+)(尿K^(+)浓度为47.2 mmol/24 h),血压正常[102~125/60~77 mmHg(1 mmHg=0.133 kPa)],临床诊断为GS孕妇。对其采取静脉输注氯化钾(KCl)注射液、口服KCl口服液及门冬氨酸钾镁片治疗。孕龄为28+1孕周时,病情稳定出院。出院后由多学科团队对其进行门诊随访。孕龄为36+6孕周时,对其采取选择性剖宫产术分娩2例活婴,手术顺利,术后第4天孕妇及其分娩新生儿顺利出院。随访至2023年6月结果显示,母儿情况均良好。②文献复习结果:由于国内外双胎妊娠合并GS报道较少,所以将文献检索结果中的单胎妊娠合并GS病例纳入研究。根据本研究设定的文献检索策略,共计检索到有关GS孕妇研究的国内外相关�Objective To investigate clinical treatment and diagnosis and pregnancy outcomes of twin pregnancy combined with Gitelman syndrome(GS)and review related literature.Methods A pregnant woman(patient 1)with a gestational age of 25^(+2)gestational weeks who admitted to the Department of Obstetrics and Gynecology,West China Second University Hospital,Sichuan University with twin pregnancy combined with hypokalemia on September 27,2021 was included into this study.The clinical data of patient 1 such as medical history,related examination results at admission,treatment protocols and outcome were retrospectively analyzed.And related literature of GS in pregnancy was reviewed with"Gitelman syndrome"and"pregnancy"both in Chinese and English as keywords in CNKI,Wanfang service platform,PubMed and Web of Science,and the search time was set from 2013 to 2023.The clinical manifestations,diagnosis and treatment protocols and maternal and fetal prognosis of patient 1 and GS pregnant women enrolled in GS related literature were summarized.This study met the requirements of World Medical Association Declaration of Helsinki revised in 2013.Results①Medical history,related examination results at admission,treatment protocols and outcome of patient 1:36 years old,G_(3)P_(1)^(+1),post-in vitro fertilization-embryo transfer(two blastulas were transferred).She was admitted to the hospital at the gestational age of 25^(+2)gestational weeks due to hypokalemia(serum K^(+)concentration was 2.60 mmol/L)and hypomagnesemia(serum Mg^(2+)concentration was 0.66 mmol/L)detected by routine examination during pregnancy.After admission,the examination results revealed alkalosis(blood pH value was 7.530),renal potassium loss(urine K^(+)concentration was 47.2 mmol/24 h),normal blood pressure with 102-125/60-77 mmHg(1 mmHg=0.133 kPa),then the pregnant woman was clinically diagnosed as GS.Intravenous infusion of potassium chloride injection,oral potassium chloride oral solution,and potassium magnesium aspartate tablets were used for treatment.Her condit

关 键 词：GITELMAN综合征 妊娠 双胎 水电解质失调 钠-氯协同转运蛋白 SLC12A3基因突变 妊娠结局 低钾血症 孕妇 

分 类 号：R714.2[医药卫生—妇产科学]