Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease

J Perinatol. 2015 Jul;35(7):537-8. doi: 10.1038/jp.2015.50.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder. Ultrasound (US) findings can include enlarged echogenic kidneys in utero and cysts in multiple organs in adults. Though a highly penetrant disease, due to varied clinical expression and the typical late onset of symptoms, reproductive-aged women may not know their carrier status. We present two cases in which fetal US findings suggested ADPKD and additional evaluation identified likely maternal ADPKD as well.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Kidney / diagnostic imaging*
  • Kidney / embryology
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging*
  • Ultrasonography, Prenatal*