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常染色体显性多囊肾病的意外超声产前诊断

Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease.

作者信息

Journel H, Guyot C, Barc R M, Belbeoch P, Quemener A, Jouan H

机构信息

Institut Gregor Mendel, Vannes, France.

出版信息

Prenat Diagn. 1989 Sep;9(9):663-71. doi: 10.1002/pd.1970090910.

Abstract

The prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. Diagnosis is easy in a family with a positive ADPKD history. Conversely, there may be no apparent family history, as in our three cases and three cases from the literature. We consider the problems of unexpected diagnosis, family investigation, and the prognosis of ADPKD in children with prenatally diagnosable forms.

摘要

常染色体显性多囊肾病(ADPKD)的产前诊断报告越来越频繁。我们报告3例病例,并回顾12例经超声检查结果诊断为胎儿期ADPKD的病例。回声增强和肾脏增大是ADPKD的主要超声征象。肾囊肿并不常见。在有ADPKD阳性家族史的家庭中诊断容易。相反,可能没有明显的家族史,如我们的3例病例以及文献中的3例病例。我们考虑了意外诊断、家族调查以及产前可诊断形式的儿童ADPKD的预后等问题。

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