Pediatric Autosomal Dominant Polycystic Kidney Disease

Etiology:
— Mutations in PKD1 or PKD2 genes
— Spontaneous mutations can occur
— Cyst formation anywhere in nephron (macrocysts)
— Ductal plate malformation resulting in fibrocystic liver disease is rare
Imaging US: Individual renal macrocysts located in cortex and medulla are easy to resolve individually
DDX: Renal cysts in tuberous sclerosis
Complications:
Treatment:
Clinical:
— Mostly asymptomatic during childhood
— Leads to chronic kidney disease and hypertension

Radiology Cases of Autosomal Dominant Polycystic Kidney Disease

US of autosomal dominant polycystic kidney disease — Sagittal US of both kidneys shows multiple large round anechoic lesions in the bilateral kidneys.

CT of autosomal dominant polycystic kidney disease — Axial CT with contrast of the abdomen (above left) shows a large laceration in the middle of the right lobe of the liver that is associated with a large amount of hemoperitoneum inferior to the liver (below left). Coronal CT (right) shows multiple large cysts scattered throughout the cortex and medulla in both kidneys.

CT of autosomal dominant polycystic kidney disease — Axial CT with contrast of the abdomen shows multiple variably sized round low density lesions in the bilateral kidneys.