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Virtual Pediatric Hospital: Paediapaedia: Infantile / Juvenile Polycystic Kidney Disease (Autosomal Recessive Polycystic Kidney Disease) Paediapaedia: Genitourinary Diseases

Infantile / Juvenile Polycystic Kidney Disease (Autosomal Recessive Polycystic Kidney Disease)

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
A spectrum of disease involving the kidneys and liver. The infantile form presents earlier and involves primarily the kidneys, while the juvenile form presents later and involves primarily the liver. The infantile form can expire in the newborn period from pulmonary hypoplasia associated with fetal anuria or present later in infancy with renal failure. The juvenile form presents at 5-10 years old with hepatosplenomegaly and hematemesis due to varices.

Etiology/Pathophysiology:
Due to dilated renal collecting tubules located throughout the kidneys. Also have hepatic fibrosis, bile duct hyperplasia, and variable parenchymal cysts. The classification as infantile or juvenile forms depends on the amount of renal disease present.

In the infantile form there is severe renal involvement with incidental hepatic disease with enlarged kidneys filled with microcysts which give a spongelike cross sectional appearance to the renal cortex and medulla.

In the juvenile form there is congenital hepatic fibrosis with renal tubule ectasia. This dominant hepatic fibrosis with minimal renal involvement leads to portal hypertension and varices. The kidneys are less cystic and have cysts and renal tubular ectasia primarily in the medulla.

Pathology:
Dilated renal collecting tubules located throughout the kidneys.

Imaging Findings:
Infantile form: On IVP the kidneys appear to be bilateral large flank masses with poor renal function and visualization. The nephrogram has a streaky and striated appearance reflecting stasis of contrast in the dilated collecting tubules which can be prolonged for days after the IVP. The pelvicalyceal systems, when seen, are normal. Ultrasound shows large diffusely echogenic kidneys as the cysts are too small to resolve with ultrasound.

Juvenile form: An IVP can be normal or show renal tubule ectasia like that seen in medullary sponge kidney in adults. An ultrasound of the liver reveals increased liver echogenicity from the hepatic fibrosis. An esophagram will show esophageal varices.

DDX:

References:
See References Chapter.

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