- Etiology: Mutation in PKHD1 gene leading to:
— Renal microcystic disease occurring in the distal convoluted tubules and collecting ducts leading to diffuse and uniform involvement of the kidney with innumerable tiny microcysts involving both cortex and medulla
— Ductal plate malformation leads to fibrocystic liver disease in the form of congenital hepatic fibrosis which leads to portal hypertension or bile duct ectasia and cystic dilation (Caroli disease) - Imaging:
— Oligohydramnios in utero
— Pulmonary hypoplasia
— Severe nephromegaly - Imaging US:
— Bilateral enlarged and echogenic and nonfunctioning kidneys with small bladder
— Borders of individual renal microcyts may be difficult to resolve as they are so small hence the kidneys appear echogenic on older lower frequency US probes while current higher frequency US probes can better resolve the individual microcysts
— May also have hepatic fibrosis and intra and extrahepatic biliary dilation (Caroli disease) with there being an inverse relationship between hepatic and renal involvement - DDX:
- Complications:
— Needs regular US to look for hepatic fibrosis, signs of portal hypertension and Caroli disease
— Develop decreased renal function leading to end stage renal disease - Treatment:
- Clinical:
— May present with oligohydramnios which leads to pulmonary hypoplasia and respiratory failure
Radiology Cases of Autosomal Recessive Polycystic Kidney Disease
Radiology Cases of Autosomal Recessive Polycystic Kidney Disease Resulting in Oligohydramnios Resulting in Pulmonary Hypoplasia
