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巴特综合征的产前诊断。

Prenatal diagnosis of Bartter syndrome.

作者信息

Shalev H, Ohaly M, Meizner I, Carmi R

机构信息

Pediatric Division, Soroka Medical Center, Beer-Sheva, Israel.

出版信息

Prenat Diagn. 1994 Oct;14(10):996-8. doi: 10.1002/pd.1970141017.

Abstract

Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.

摘要

巴特综合征是一种常染色体隐性遗传性醛固酮增多症且血浆肾素升高的疾病,因羊水过多过早出现,在一次高危妊娠中被怀疑。通过证明羊水和胎儿脐带血中醛固酮水平升高,进一步确诊得以完成。电解质水平与报告的对照组相比无显著差异。因此提示,羊水过多是巴特综合征中胎儿尿量增加的结果,且羊水醛固酮是该疾病产前诊断的可靠标志物。

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