Autosomal recessive polycystic kidney disease

Large echogenic kidneys

Large echogenic kidneys

• Inheritable cystic kidney disease with variable penetrance and severity
• Enlarged hyperechoic kidneys
• Bladder with little urine
• Oligohydramnios
• Liver typically involved

Differential

• Multicystic dysplastic kidney

Nonfunctioning kidney replaced by cysts

2nd most common abdominal mass in neonate

Bilateral is fatal, but very rare

Unilateral a/w anomalies of contralateral kidney

• Trisomy 13

Kidneys usually echogenic, enlarged, cysts may be visible

Holoprosencephaly

Polydactyly

Facial anomalies

• Meckel-Gruber syndrome

Cystic renal dysplasia

Encephalocele

Polydactyly

• Autosomal dominant polycystic kidney disease

Scan parental kidneys

Asymmetric renal enlargement

Rarely presents in fetus

Renal echogenicity generally normal but hyperechoic kidneys have been described

Amniotic fluid normal

Also consider: medullary cystic kidney disease, aquired cystic disease of uremia, Von Hippel-Lindau syndrome, and Tuberous sclerosis