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与巴特综合征相关的胎儿多尿症和羊水过多

Fetal polyuria and hydramnios associated with Bartter's syndrome.

作者信息

Sieck U V, Ohlsson A

出版信息

Obstet Gynecol. 1984 Mar;63(3 Suppl):22S-24S.

PMID:6366663
Abstract

The case of a woman with recurrent hydramnios in three pregnancies, from which the only surviving infant was later found to have Bartter's syndrome, is described. Analysis of electrolytes, renin activity, and aldosterone levels in amniotic fluid from this pregnancy are presented. The finding of maternal hydramnios in the present and 12 other reported cases of Bartter's syndrome suggests that increased fetal voiding is the most likely causative factor in the development of increased amniotic fluid volume. Early onset hydramnios might signify Bartter's syndrome in the offspring in families with an index case. In cases of hydramnios of unknown etiology, appropriate investigations might lead to early diagnosis and treatment of Bartter's syndrome.

摘要

本文描述了一名女性在三次怀孕中均出现羊水过多的病例,其唯一存活的婴儿后来被诊断为巴特综合征。文中还呈现了此次怀孕时羊水的电解质、肾素活性及醛固酮水平分析。在本病例及其他12例已报道的巴特综合征病例中均发现母体羊水过多,这表明胎儿排尿增加很可能是羊水量增多的致病因素。对于有索引病例的家庭,早期出现的羊水过多可能预示着后代患有巴特综合征。在病因不明的羊水过多病例中,进行适当检查可能会实现巴特综合征的早期诊断和治疗。

相似文献

1
Fetal polyuria and hydramnios associated with Bartter's syndrome.与巴特综合征相关的胎儿多尿症和羊水过多
Obstet Gynecol. 1984 Mar;63(3 Suppl):22S-24S.
2
Recurrent hydramnios as a result of fetal Bartter's syndrome (a case report).
J Postgrad Med. 1991 Apr;37(2):119-20.
3
[Fetal polyuria and decrease of electrolytes in amniotic fluid as principal markers of neonatal Bartter's syndrome].[胎儿多尿及羊水电解质减少作为新生儿巴特综合征的主要标志物]
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A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis.巴特综合征的一种变异型。与羊水过多、早产、高钙尿症和肾钙质沉着症相关的巴特综合征。
Acta Paediatr Scand. 1984 Nov;73(6):868-74. doi: 10.1111/j.1651-2227.1984.tb17793.x.
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Hydramnios and observations in Bartter's syndrome.羊水过多与巴特综合征的观察
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[Prenatal Bartter's syndrome. Report of two cases].[产前巴特综合征。两例报告]
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[Antenatal form of Bartter's syndrome].
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Elevated aldosterone in amniotic fluid and maternal blood has diagnostic potential in pregnancies complicated with a fetus of Bartter syndrome.羊水和母血中醛固酮水平升高在合并巴特综合征胎儿的妊娠中具有诊断潜力。
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引用本文的文献

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Polyhydramnios: Causes, Diagnosis and Therapy.羊水过多:病因、诊断与治疗
Geburtshilfe Frauenheilkd. 2013 Dec;73(12):1241-1246. doi: 10.1055/s-0033-1360163.
2
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.在一个患有巴特综合征的家族中鉴定出复合杂合性KCNJ1突变(编码ROMK)及其致病性的功能分析。
Physiol Rep. 2013 Nov;1(6):e00160. doi: 10.1002/phy2.160. Epub 2013 Nov 19.
3
Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and functional significance.
肾脏钠-钾-2氯协同转运蛋白NKCC2的异构体:表达及功能意义
Am J Physiol Renal Physiol. 2008 Oct;295(4):F859-66. doi: 10.1152/ajprenal.00106.2008. Epub 2008 May 21.
4
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.肾脏盐处理基因中的罕见独立突变会导致血压变化。
Nat Genet. 2008 May;40(5):592-599. doi: 10.1038/ng.118. Epub 2008 Apr 6.
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Threading through the mizmaze of Bartter syndrome.梳理巴特综合征的迷宫
Pediatr Nephrol. 2006 Jul;21(7):896-902. doi: 10.1007/s00467-006-0113-7. Epub 2006 May 16.
6
Growth from birth to adulthood in a patient with the neonatal form of Bartter syndrome.一名患有新生儿型巴特综合征患者从出生到成年期的生长情况。
Pediatr Nephrol. 1988 Apr;2(2):205-9. doi: 10.1007/BF00862592.