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中华妇幼临床医学杂志(电子版) ›› 2023, Vol. 19 ›› Issue (05) : 559 -568. doi: 10.3877/cma.j.issn.1673-5250.2023.05.009

论著

双胎妊娠合并Gitelman综合征孕妇的妊娠结局及文献复习
陈甜甜, 王晓东, 余海燕()   
  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
  • 收稿日期:2023-07-11 修回日期:2023-09-13 出版日期:2023-10-01
  • 通信作者: 余海燕

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

Tiantian Chen, Xiaodong Wang, Haiyan Yu()   

  1. 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
  • Received:2023-07-11 Revised:2023-09-13 Published:2023-10-01
  • Corresponding author: Haiyan Yu
  • Supported by:
    Natural Science Foundation of Sichuan Province(2022NSFSC0659)
引用本文:

陈甜甜, 王晓东, 余海燕. 双胎妊娠合并Gitelman综合征孕妇的妊娠结局及文献复习[J]. 中华妇幼临床医学杂志(电子版), 2023, 19(05): 559-568.

Tiantian Chen, Xiaodong Wang, Haiyan Yu. Pregnancy outcome of twin pregnancy with Gitelman syndrome: a case report and literature review[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 559-568.

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,G3P1+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Mg2+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文献共计33篇,涉及55例(患者2~56)妊娠合并GS孕妇,共计67次妊娠(69例胎儿),双胎妊娠为2次(患者30~31),其中发生死胎者为4例(患者2、34、46、49),胎儿生长受限者为3例(患者29、41、53),新生儿生后第7天死亡者为1例(患者32),其余单胎及双胎妊娠新生儿均预后良好。GS孕妇发生妊娠期糖尿病/糖耐量异常者为14例(患者3~4、7、11~12、26~27、33~34、36、39、42、52~53),羊水偏少/过少者为4例(患者8、28、34、41),妊娠期高血压疾病者为6例(患者27、34、41、43~44,患者41的2次妊娠均发生子痫前期)。在67次妊娠中,除1例(患者46)孕妇频发室颤及心脏骤停,预后不良外,其余均预后较好。

结论

对妊娠合并GS孕妇,临床需进行多学科团队合作及个性化管理,采取严密监测及积极治疗措施后,多数GS孕妇母儿结局较为良好。虽未观察到双胎妊娠合并GS与单胎妊娠合并GS在症状严重程度、并发症发病率及妊娠结局方面的差异,但是仍应对双胎妊娠合并GS孕妇加强管理与监测。由于目前国内外文献报道的妊娠合并GS病例仍较少,特别是双胎妊娠,因此对双胎妊娠合并GS孕妇的临床特征、分娩方式及时机、治疗方式与目标等,仍需进一步探究。

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.

Results

①Medical history, related examination results at admission, treatment protocols and outcome of patient 1: 36 years old, G3P1+ 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 Mg2+ 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 condition was stable at 28+ 1 gestational weeks and discharged from the hospital. After discharge, she received outpatient follow-up by a multidisciplinary team. Elective cesarean section was performed at 36+ 6 gestational weeks to deliver two live infants, and the operation was successful. The pregnant woman and the newborns were discharged from the hospital 4 days after caesarean section. Follow up until June 2023, both mother and child were in good condition. ②Results of literature review were as follows. Due to the limited number of reports on twin pregnancy combined with GS both domestically and internationally, cases of single pregnancy combined with GS from literature search results were included in the study. According to the literature search strategy of this study, a total of 33 pieces of literature involving 55 cases of pregnancy women GS (patient 2 to 56) and 67 times of pregnancy and 69 fetuses (twice twin pregnancy) were retrieved. Among them, stillbirths occurred in 4 cases (patient 2, 34, 46, 49), fetal growth restriction occurred in 3 cases (patient 29, 41, 53), and one newborn (delivered by patient 32) died 7 days after birth. The rest of the single birth and twin neonates all had good outcomes. There were 14 cases (patient 3-4, 7, 11-12, 26-27, 33-34, 36, 39, 42, 52-53) of gestational diabetes mellitus/impaired glucose tolerance, 4 cases (patient 8, 28, 34, 41) of oligohydramnios, and 6 cases (patient 27, 34, 41, 43-44, twice pregnacies of patient 41 both occurred pre-eclampsia) of hypertensive disorders of pregnancy. Among the 67 pregnancies, except for one pregnant woman who frequently experienced ventricular fibrillation and cardiac arrest with poor prognosis, the remaining 66 cases had a good prognosis.

Conclusions

Pregnancy complicated with GS requires multidisciplinary cooperation and individualized management. After close monitoring and active treatment, most pregnant mothers and infants have good outcomes. Although the differences in symptom severity, incidence rate of complications and pregnancy outcome between twin pregnancy with GS and single pregnancy with GS are not observed, the management and monitoring of twin pregnancy with GS should be strengthened. Due to the limited number of reported cases of pregnancy complicated with GS, especially twin pregnancies, further exploration is needed on the clinical characteristics, delivery methods, delivery time, treatment methods and goals of twin pregnancy with GS.

[1]
Knoers NV, Levtchenko EN. Gitelman syndrome [J]. Orphanet J Rare Dis, 2008, 3: 22. DOI: 10.1186/1750-1172-3-22.
[2]
Yu H, Liao H, Wang X, et al. Outcome of twin pregnancy in a patient with Gitelman syndrome: a case report and literature review [J]. Ann Palliat Med, 2020, 9(4): 2361-2366. DOI: 10.21037/apm-19-299.
[3]
Gamba G. Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters [J]. Physiol Rev, 2005, 85(2): 423-493. DOI: 10.1152/physrev.00011.2004.
[4]
Zhang L, Peng X, Zhao B, et al. Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort [J]. Nephrology (Carlton), 2020, 25(10): 749-757. DOI: 10.1111/nep.13743.
[5]
Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference [J]. Kidney Int, 2017, 91(1): 24-33. DOI: 10.1016/j.kint.2016.09.046.
[6]
中国研究型医院学会罕见病分会,中国罕见病联盟,北京罕见病诊疗与保障学会,等. Gitelman综合征诊疗中国专家共识(2021版) [J]. 协和医学杂志2021, 12(6): 902-912. DOI: 10.12290/xhyxzz.2021-0555.
[7]
Najam R, Tomar Y, Singh M. Gitelman′s syndrome in pregnancy with adverse foetal outcome: a case report [J]. Cureus, 2023, 15(2): e34791. DOI: 10.7759/cureus.34791.
[8]
彭春燕,侯洁,黄大健,等. Gitelman综合征合并妊娠期糖尿病2例 [J]. 中华妇产科杂志2022, 57(8): 622-625. DOI: 10.3760/cma.j.cn112141-20211227-00754.
[9]
Zhang J, Liu F, Tu J. Gitelman syndrome in pregnancy: a case series [J]. J Matern Fetal Neonatal Med, 2022, 35(5): 826-831. DOI: 10.1080/14767058.2020.1803260.
[10]
Smith KA, Reynolds ML, Chang EH, et al. Anesthetic considerations for cesarean delivery in a parturient with severe gitelman syndrome [J]. Cureus, 2022, 14(6): e26260. DOI: 10.7759/cureus.26260.
[11]
Sienicka A, Pisula A, Kacperczyk-Bartnik J, et al. Difficulties in the management of hypokalemia in a pregnant patient with Gitelman syndrome [J]. Ginekol Pol, 2022, 93(10): 856-857. DOI: 10.5603/GP.a2022.0111.
[12]
Oliveira I, Silva R, Pires C. " Simbiosis" between Gitelman and pregnancy: a challenge [J]. Acta Obstétrica e Ginecológica Portuguesa, 2022, 16(1): 48-51.
[13]
谢倩,苏巧俐,李双庆. 以桥本甲状腺炎为首发表现的妊娠合并Gitelman综合征一例报告 [J]. 中国医师进修杂志2021, 44(3): 274-276. DOI: 10.3760/cma.j.cn115455-20201027-01441.
[14]
Rombach S, Benner A, Schick MA. Sectio caesarea under Gitelman syndrome [J]. Anasthesiol Intensivmed Notfallmed Schmerzther, 2021, 56(4): 289-295. DOI: 10.1055/a-1299-0579.
[15]
Micha G, Kalopita K, Theodorou S, et al. Peripartum management of Gitelman syndrome for vaginal delivery: a case report and review of literature [J]. Anesth Essays Res, 2021, 15(1): 146-148. DOI: 10.4103/aer.aer_82_21.
[16]
Lim M, Gannon D. Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy [J]. BMJ Case Rep, 2021, 14(5): e241756. DOI: 10.1136/bcr-2021-241756.
[17]
Ergani SY, Orgul G, Tolunay HE, et al. Gitelman syndrome in pregnancy: a clinical challenge [J]. Z Geburtshilfe Neonatol, 2021, 225(6): 526-528. DOI: 10.1055/a-1498-2940.
[18]
Acharya R, Upadhyay K. Unmasking of Gitelman syndrome during pregnancy in an adolescent with thyrotoxic crisis [J]. Pediatr Rep, 2021, 13(4): 632-638. DOI: 10.3390/pediatric13040075.
[19]
Wu WF, Pan M. The outcome of two pregnancies in a patient with Gitelman syndrome: case report and review of the literature [J]. J Matern Fetal Neonatal Med, 2020, 33(24): 4171-4173. DOI: 10.1080/14767058.2019.1598359.
[20]
Pezzotta M, Magri R, Stagnati V, et al. A delicate balance: Gitelman syndrome and gestational diabetes. A case report [J]. G Ital Nefrol, 2020, 37(4): 2020-vol4.
[21]
李曼玉,尹婕,刘燕萍,等. 妊娠合并Gitelman综合征的孕期健康管理:何去何从? [J]. 协和医学杂志2019, 10(3): 299-303. DOI: 10.3969/j.issn.1674-9081.2019.03.020.
[22]
屠京慧,刘起,尹聪. 妊娠合并Gitelman综合征2例报道 [J]. 实用妇产科杂志2018, 34(5): 399-400.
[23]
黄晓荣,傅晓莹,宋津良,等. Gitelman综合征合并妊娠1例 [J]. 广东医学2018, 39(8): 封3. DOI: 10.13820/j.cnki.gdyx.2018.08.026.
[24]
Elbouajaji K, Blanchier D, Pourrat O, et al. Management of Gitelman syndrome during pregnancy reporting 12 cases[J]. Nephrol Ther, 2018, 14(7): 536-543. DOI: 10.1016/j.nephro.2018.06.003.
[25]
Merhi B, Miller M, Lanis A, et al. Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome [J]. Obstet Med, 2017, 10(3): 138-141. DOI: 10.1177/1753495x16683088.
[26]
Lee M, Kim DI, Lee KH, et al. HELLP syndrome in a pregnant patient with Gitelman syndrome [J]. Kidney Res Clin Pract, 2017, 36(1): 95-99. DOI: 10.23876/j.krcp.2017.36.1.95.
[27]
Frohwein T, Kim S, Gnanasekaran I. Refractory hypomagnesemia during pregnancy in a patient with Gitelman syndrome [J]. Am J Kidney Dis, 2017, 69(4): A43. DOI: 10.1053/j.ajkd.2017.02.116.
[28]
Elkoundi A, Kartite N, Bensghir M, et al. Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barré syndrome during pregnancy and review of the literature [J]. Clin Case Rep, 2017, 5(10): 1597-1603. DOI: 10.1002/ccr3.1122.
[29]
宋丹丹,梁慧,郭燕燕,等. 妊娠早期意外诊断的Gitelman综合征一例及其家系基因突变分析 [J]. 中华内分泌代谢杂志2016, 32(10): 869-871. DOI: 10.3760/cma.j.issn.1000-6699.2016.10.015.
[30]
陈国庆,乔宠. Gitelman综合征合并二次妊娠1例报道并文献复习 [J]. 现代妇产科进展2016, 25(9): 719-720. DOI: 10.13283/j.cnki.xdfckjz.2016.09.037.
[31]
Nand N, Deshmukh AR, Mathur R, et al. Gitelman syndrome: presenting during pregnancy with adverse foetal outcome [J]. J Assoc Physicians India, 2016, 64(10): 104-105.
[32]
Koudsi L, Nikolova S, Mishra V. Management of a severe case of Gitelman syndrome with poor response to standard treatment [J]. BMJ Case Rep, 2016, 2016: bcr2015212375. DOI: 10.1136/bcr-2015-212375.
[33]
Acelajado MC, Culpepper RM, Bolton Iii WD. Hyperemesis gravidarum in undiagnosed Gitelman′s syndrome [J]. Case Rep Med, 2016, 2016: 2407607. DOI: 10.1155/2016/2407607.
[34]
蔡红侠,吴爱珍,林文华,等. 2例妊娠合并Gitelman综合征患者的护理 [J]. 护理学杂志2015, 30(20): 42-44. DOI: 10.3870/j.issn.1001-4152.2015.20.042.
[35]
Waguespack DR, Kasekar R, Abdel-Kader K, et al. Two cases of successful pregnancy in patients with Gitelman′s syndrome [J]. Clin Nephrol, 2015, 84(5): 301-306. DOI: 10.5414/cn108526.
[36]
Ribeiro RB, da Silveira Junior SA, Silva CC, et al. Gitelman′s syndrome: from diagnosis to follow-up during pregnancy[J]. J Bras Nefrol, 2015, 37(2): 264-267. DOI: 10.5935/0101-2800.20150040.
[37]
Mathen S, Venning M, Gillham J. Outpatient management of Gitelman′s syndrome in pregnancy [J]. BMJ Case Rep, 2013, 2013: bcr2012007927. DOI: 10.1136/bcr-2012-007927.
[38]
Nijenhuis T, Vallon V, van der Kemp AW, et al. Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia [J]. J Clin Invest, 2005, 115(6): 1651-1658. DOI: 10.1172/jci24134.
[39]
Beers K, Patel N. Kidney physiology in pregnancy [J]. Adv Chronic Kidney Dis, 2020, 27(6): 449-454. DOI: 10.1053/j.ackd.2020.07.006.
[40]
Grzeszczak K, Kapczuk P, Kupnicka P, et al. Calcium, potassium, sodium, and magnesium concentrations in the placenta, umbilical cord, and fetal membrane from women with multiple pregnancies [J]. Life (Basel), 2023, 13(1): 153. DOI: 10.3390/life13010153.
[41]
Michałek K, Jankowiak D, Ozgo M, et al. Renal regulation of sodium, potassium and chloride balance in single- and twin-pregnant goats [J]. Acta Vet Hung, 2010, 58(2): 199-209. DOI: 10.1556/AVet.58.2010.2.6.
[42]
Minoda A, Tsuda H, Masahashi Y, et al. Maternal renal dysfunction in late pregnancy in twin and singleton pregnancies: retrospective study [J]. J Clin Med, 2022, 12(1): 90. DOI: 10.3390/jcm12010090.
[43]
Dudenhausen JW, Maier RF. Perinatal problems in multiple births [J]. Dtsch Arztebl Int, 2010, 107(38): 663-668. DOI: 10.3238/arztebl.2010.0663.
[44]
Gallagher H, Soar J, Tomson C. New guideline for perioperative management of people with inherited salt-wasting alkalosis[J]. Br J Anaesth, 2016, 116(6): 746-749. DOI: 10.1093/bja/aew102.
[45]
董倩,陈晓波,宋福英,等. 儿童Gitelman综合征临床分析[J/OL]. 中华妇幼临床医学杂志(电子版), 2020, 16(1): 42-49. DOI: 10.3877/cma.j.issn.1673-5250.2020.01.006.
[46]
阚路兰,田茂强,唐一蜜. 以腹痛为首发症状的轻型Gitelman综合征患儿1例及文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2023, 19(4): 473-479. DOI: 10.3877/cma.j.issn.1673-5250.2023.04.013.
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