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吉特曼综合征患者双胎妊娠结局:一例病例报告及文献复习

Outcome of twin pregnancy in a patient with Gitelman syndrome: a case report and literature review.

作者信息

Yu Haiyan, Liao Hua, Wang Xiaodong, Tong Yu

机构信息

Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

出版信息

Ann Palliat Med. 2020 Jul;9(4):2361-2366. doi: 10.21037/apm-19-299. Epub 2020 Jul 20.

Abstract

Gitelman syndrome (GS) is a rare autosomal-recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The impact of GS to pregnant and fetus is not wellknown, with few reports until now and no report about twin pregnancy and GS. We report the successful outcome of monochorionic twin pregnancy in a patient with GS. Oral or intravenously potassium chloride and magnesium citrate were prescribed. The course of the pregnancy was uneventful and the patient remained asymptomatic despite persistent hypokalemia. At 36+4 weeks of gestation, two female babies were delivered, weighing 2,380 and 2,210 g respectively. SLC12A3 gene analysis in mother and two babies revealed heterozygous mutations at 988 ATA codon in exon 26, which convert isoleucine to threonine (I988T). The mother and the twins are all in good health condition during three years follow-up. Close fetal serial surveillance, frequent electrolyte evaluation and adequately supplement with potassium and magnesium should be required to prevent obstetrical and fetal complications in a patient with GS. Management by multidisciplinary team is critical to optimizing outcomes for mother and fetus.

摘要

吉特曼综合征(GS)是一种罕见的常染色体隐性疾病,其特征为低钾血症、低镁血症、代谢性碱中毒和低钙尿症。GS对孕妇和胎儿的影响尚不清楚,目前报道较少,且尚无关于双胎妊娠与GS的报道。我们报告了1例患有GS的单绒毛膜双胎妊娠成功分娩的病例。给予口服或静脉注射氯化钾和枸橼酸镁。孕期过程顺利,尽管患者持续存在低钾血症,但仍无症状。妊娠36 + 4周时,分娩出2名女婴,体重分别为2380 g和2210 g。对母亲和2名婴儿进行的SLC12A3基因分析显示,外显子26的988 ATA密码子存在杂合突变,该突变使异亮氨酸转变为苏氨酸(I988T)。在3年的随访中,母亲和双胞胎均健康状况良好。对于患有GS的患者,应进行密切的胎儿连续监测、频繁的电解质评估,并充分补充钾和镁,以预防产科和胎儿并发症。多学科团队管理对于优化母婴结局至关重要。

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