Fetal imaging prompts maternal diagnosis: Autosomal dominant polycystic kidney disease

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.