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严重双侧肾发育不全产前诊断后的结局

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia.

作者信息

Spaggiari Emmanuel, Stirnemann Julien J, Heidet Laurence, Dreux Sophie, Ville Yves, Oury Jean-Francois, Delezoide Anne-Lise, Muller Françoise

机构信息

Developmental Biology, Robert Debré Hospital, AP-HP, Paris, France.

出版信息

Prenat Diagn. 2013 Dec;33(12):1167-72. doi: 10.1002/pd.4217. Epub 2013 Sep 1.

Abstract

OBJECTIVE

The aim of this research was to evaluate the outcome and prognostic value of fetal serum β2-microglobulin in case of prenatal diagnosis of severe bilateral renal hypoplasia.

METHODS

Cases of hypoplastic kidneys were detected on ultrasound and referred to our laboratory for determination of fetal blood β2-microglobulin, over a 12-year period. Prenatal prognostic assessment was based upon amniotic fluid volume and fetal serum β2-microglobulin (cut-off: 5 mg/L). Outcome measures were postnatal renal function or renal pathological features when termination of pregnancy (TOP) and genetic studies were performed.

RESULTS

A total of 34 cases were identified; 13 (38%) were liveborn and 21 (62%) underwent TOP. Renal hypoplasia was confirmed postnatally in all cases. Oligohydramnios/anhydramnios was observed in 30/34 (88%) cases. Associated genetic or anatomical anomalies were found in 8/34 (24%) cases. Renal function of liveborn infants was normal in 4/13 cases. Renal lesions were observed in all TOPs (21/21 cases). Overall, 30/34 (88.2%) cases had a poor outcome. β2-microglobulin accurately predicts poor renal outcome in 27/31 (87.1%) cases. β2-microglobulin was not interpretable in three cases due to amniotic fluid contamination. The prognostic value of β2-microglobulin was similar to that of amniotic fluid volume assessment.

CONCLUSION

Hypoplastic kidneys complicated by oligohydramnios/anhydramnios are associated with poor outcome. Fetal serum β2-microglobulin and oligohydramnios both predicted poor outcome.

摘要

目的

本研究旨在评估胎儿血清β2微球蛋白在严重双侧肾发育不全产前诊断中的结果及预后价值。

方法

在12年期间,通过超声检测出肾发育不全的病例,并将其转诊至我们实验室测定胎儿血β2微球蛋白。产前预后评估基于羊水体积和胎儿血清β2微球蛋白(临界值:5mg/L)。结局指标为终止妊娠(TOP)时的产后肾功能或肾脏病理特征以及进行的基因研究。

结果

共识别出34例病例;13例(38%)存活出生,21例(62%)接受了TOP。所有病例产后均确诊为肾发育不全。30/34例(88%)观察到羊水过少/无羊水。8/34例(24%)发现相关的基因或解剖异常。13例存活出生婴儿中4例肾功能正常。所有TOP病例(21/21例)均观察到肾脏病变。总体而言,30/34例(88.2%)结局不良。β2微球蛋白在27/31例(87.1%)病例中准确预测了不良肾脏结局。由于羊水污染,3例中β2微球蛋白无法解读。β2微球蛋白的预后价值与羊水体积评估相似。

结论

合并羊水过少/无羊水的肾发育不全与不良结局相关。胎儿血清β2微球蛋白和羊水过少均预测了不良结局。

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