RT Book, Section A1 Bianchi, Diana W. A1 Crombleholme, Timothy M. A1 D'Alton, Mary E. A1 Malone, Fergal D. SR Print(0) ID 1106399419 T1 Polycystic Kidney Disease T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-144201-5 LK obgyn.mhmedical.com/content.aspx?aid=1106399419 RD 2024/03/29 AB Key PointsAutosomal recessive polycystic kidney disease (ARPKD) is characterized by bilaterally enlarged echogenic kidneys.Autosomal dominant polycystic kidney disease (ADPKD) is the most common lethal genetic disease inherited as a dominant Mendelian trait.ARPKD is less common in the general population because of its early mortality, with an incidence of 1:40,000 births.ADPKD has an incidence of 1 in 1000 living individuals with near 100% penetrance.The differential diagnosis of PKD includes Bardet–Biedl syndrome, Meckel–Gruber syndrome, Ivemark syndrome, and Jarcho–Levin syndrome.In the absence of associated malformations, bilaterally symmetrically enlarged echogenic kidneys with renal cysts and oligohydramnios are most likely due to either ARPKD or ADPKD.Renal ultrasound examinations of both parents should be obtained to evaluate for ADPKD.Oligohydramnios-induced pulmonary hypoplasia is a leading cause of perinatol mortality in polycystic kidney disease.The clinical course for prenatally presenting ADPKD is generally milder than for ARPKD.Aggressive neonatal management of infants with ARPKD has led to 1-year survival rates of the order of 82% to 85%.