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难治性重度羊水过多的罕见病因:产前巴特综合征

A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome.

作者信息

Nam Gina, Cho Angela, Park Mi-Hye

机构信息

Department of Obstetrics and Gynecology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul 06973, Korea.

Asan Medical Center, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.

出版信息

Medicina (Kaunas). 2021 Mar 16;57(3):272. doi: 10.3390/medicina57030272.

Abstract

: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. : For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

摘要

产前巴特综合征是一种常染色体隐性疾病,可导致严重的多尿,进而引起严重的羊水过多和早产。产前巴特综合征的产前诊断较为困难,因为只有在婴儿临床诊断之后才能确诊基因诊断。关于产前巴特综合征的产前诊断和治疗的报道有限。我们报告了一例33岁孕妇,在妊娠31周时出现难治性羊水过多。超声检查未发现结构异常或胎盘问题;因此,怀疑为产前巴特综合征。通过反复羊膜穿刺术和吲哚美辛治疗,妊娠持续至36周。婴儿的临床特征及随后的基因检测确诊为产前巴特综合征。在3个月的随访中,婴儿临床状况良好。对于起病早且难治性严重羊水过多且无形态学异常的孕妇,应高度怀疑产前巴特综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d31f/8002264/7475c18c6b46/medicina-57-00272-g001.jpg

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