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.
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Euser, A., Sung, J. & Reeves, S. Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease. J Perinatol 35, 537–538 (2015). https://doi.org/10.1038/jp.2015.50
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DOI: https://doi.org/10.1038/jp.2015.50
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