Valve of prenatal diagnosis of fetal Caroli disease combined with autosomal recessive polycystic kidney disease by ultrasonography

MA Bin; WANG Yixuan; LI Tiangang; RAN Jie; LU Yan; YANG Lei; QI Ping’an

doi:10.16245/j.cnki.issn1008-6978.2020.05.021

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Valve of prenatal diagnosis of fetal Caroli disease combined with autosomal recessive polycystic kidney disease by ultrasonography

更新时间：2021-10-08

- Valve of prenatal diagnosis of fetal Caroli disease combined with autosomal recessive polycystic kidney disease by ultrasonography
- Journal of Clinical Ultrasound in Medicine Vol. 22, Issue 5, Pages: 379-381(2020)
- 作者机构：
  
  甘肃省妇幼保健院功能检查科
- 作者简介：
- 基金信息：
- DOI：10.16245/j.cnki.issn1008-6978.2020.05.021
  CLC： R714.5;R445.1
- Published：2020，
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[1]马斌,王艺璇,李天刚,冉婕,鲁琰,杨磊,祁平安.先天性肝内胆管囊状扩张症合并常染色体隐性多囊肾的产前超声特征分析[J].临床超声医学杂志,2020,22(05):379-381.

MA Bin, WANG Yixuan, LI Tiangang, et al. Valve of prenatal diagnosis of fetal Caroli disease combined with autosomal recessive polycystic kidney disease by ultrasonography. [J]. Journal of Clinical Ultrasound in Medicine 22(5):379-381(2020)
[1]马斌,王艺璇,李天刚,冉婕,鲁琰,杨磊,祁平安.先天性肝内胆管囊状扩张症合并常染色体隐性多囊肾的产前超声特征分析[J].临床超声医学杂志,2020,22(05):379-381. DOI： 10.16245/j.cnki.issn1008-6978.2020.05.021.

MA Bin, WANG Yixuan, LI Tiangang, et al. Valve of prenatal diagnosis of fetal Caroli disease combined with autosomal recessive polycystic kidney disease by ultrasonography. [J]. Journal of Clinical Ultrasound in Medicine 22(5):379-381(2020) DOI： 10.16245/j.cnki.issn1008-6978.2020.05.021.

摘要

目的分析先天性肝内胆管囊状扩张症（Caroli病）合并常染色体隐性多囊肾（ARPKD）的产前超声特征。方法回顾性分析我院经基因检测结果确诊的5例Caroli病合并ARPKD胎儿的临床资料

总结其产前超声特征及伴发畸形情况。结果 5例胎儿均检出位于染色体6p12的多囊肾/多囊肝病变1基因存在缺陷。产前超声均清晰显示为肝脏内不同程度肝内胆管扩张

双肾体积弥漫性增大、回声增强

皮髓质界限不清。其中合并羊水过少3例

单脐动脉1例

室间隔缺损1例

单侧下肢长骨发育不良并足内翻1例。结论 Caroli病合并ARPKD胎儿的典型声像图表现为不同程度肝内胆管扩张、双肾体积增大并回声增强

可合并羊水过少。

Abstract

Objective To analyze the prenatal ultrasonic characteristics of congenital intrahepatic cystic dilatation（Caroli disease） combined with autosomal recessive polycystic kidney disease（ARPKD）

and to explore its clinical application value.Methods The clinical data of 5 cases of Caroli disease complicated with ARPKD diagnosed by genetic test in our hospital were analyzed retrospectively

and their prenatal ultrasonoic features and associated malformations were summarized.Results The defects of polycystic kidney/polycystic liver disease 1 gene located on chromosome 6 p12 were detected in all 5 fetuses.The prenatal ultrasonography of 5 fetuses clearly showed different degrees of intrahepatic bile duct dilatation

diffusely enlarged volume of both kidneys

enhanced echo and unclear boundary of cortex and medulla.There were 3 cases of oligohydramnios

1 case of single umbilical artery

1 case of ventricular septal defect

1 case of long bone dysplasia of one lower limb and foot varus.Conclusion The typical ultrasonic features of Caroli disease combined with ARPKD fetus are dilated intrahepatic bile ducts

enlarged kidneys and enhanced echo

and oligohydramnios.

关键词

超声检查Caroli病常染色体隐性多囊肾基因检测

Keywords

UltrasonographyCaroli diseaseAutosomal recessive polycystic kidneyGenetic testing

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