巴特综合征的产前诊断：羊水醛固酮
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.
作者信息
Rachid Myriam L, Dreux Sophie, Pean de Ponfilly Gauthier, Vargas-Poussou Rosa, Czerkiewicz Isabelle, Chevenne Didier, Oury Jean-François, Deschênes Georges, Muller Françoise
机构信息
Biochimie-Hormonologie, Hôpital Robert Debré, APHP, Paris, France.
Département de Génétique, Hôpital Européen Georges Pompidou, APHP, Paris, France.
出版信息
Prenat Diagn. 2016 Jan;36(1):88-91. doi: 10.1002/pd.4717. Epub 2015 Dec 1.
OBJECTIVE
Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls.
METHODS
Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of prenatally suspected and postnatally confirmed Bartter syndrome (22 with identified mutations): and 72 gestational age matched controls presenting with polyhydramnios and 72 without polyhydramnios. Amniotic fluid aldosterone was compared between the three groups.
RESULTS
The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) was not different from that in the controls with polyhydramnios (90 pg/mL, P = 0.33) or without polyhydramnios (87 pg/mL, P = 0.41).
CONCLUSION
Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John Wiley & Sons, Ltd.
目的
巴特综合征是一种严重的遗传性肾小管病，其特征为出生后失盐、严重多尿、脱水、生长发育迟缓及继发性醛固酮增多症。在产前，该病通常在孕中期出现严重羊水过多后被发现。我们研究了巴特综合征患者及对照组的羊水醛固酮浓度。
方法
采用放射免疫分析法测定羊水醛固酮。我们进行了一项回顾性病例对照研究，基于36例产前疑似且产后确诊的巴特综合征患者（22例有明确突变），以及72例孕周匹配的羊水过多对照组和72例无羊水过多的对照组。比较三组的羊水醛固酮水平。
结果
巴特综合征组羊水醛固酮浓度中位数（90 pg/mL）与羊水过多对照组（90 pg/mL，P = 0.33）及无羊水过多对照组（87 pg/mL，P = 0.41）相比无差异。
结论
羊水醛固酮测定不能用于巴特综合征的产前诊断。© 2015约翰威立父子有限公司
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