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Case 51 

Case 51
Chapter:
Case 51
Author(s):

Ellen Chung

DOI:
10.1093/med/9780199758968.003.0051
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Diagnosis

Case 51 Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Findings

  • Supine AP radiograph (left) shows small bell-shaped thorax, bilateral pneumothoraces (arrowheads), bilateral chest tubes, and endotracheal tube (arrow). Bilateral flank masses (*) push bowel gas centrally.

  • Longitudinal renal US shows increased echogenicity. Dilated tubules can be resolved (arrowheads).

Differential diagnosis

For the plain radiographic appearance, the differential includes bilateral multicystic dysplastic kidneys and Eagle Barrett syndrome.

Teaching points

  • ARPKD is a disease of the kidneys and the liver. The kidneys are involved with ectasia of the collecting tubules and the liver with congenital hepatic fibrosis and biliary duct ectasia. The degrees of renal and hepatic involvement are inversely proportional and determine a spectrum of clinical presentation. Patients with a lot of renal disease present in the perinatal period with oligohydramnios and pulmonary hypoplasia, while patients with predominantly liver disease present in childhood with symptoms of portal hypertension.

  • In infants, the kidneys are enlarged and diffusely echogenic on ultrasound. The “cysts” are actually dilated collecting tubules in the renal medullae. These tubules are oriented radially. These dilated tubules are only 1 to 2 mm in diameter, and the kidneys are echogenic because the multiple cyst walls reflect the sound wave back to the transducer. Modern ultrasound equipment allows resolution of these small tubular cysts. A dark halo of compressed cortex is seen in half of patients.

  • Patients who present later with liver disease have imaging findings of portal hypertension. They may have dilated biliary ducts, occasionally so large that they engulf the portal venous radical (target sign).

Next steps in management

Management and prognosis depend on clinical presentation. Those with severe renal involvement die in the perinatal period from pulmonary hypoplasia. Those who present with liver disease are medically managed, though they may later require liver transplant.

Further reading

1. Lonergan GJ, Rice RR, Suarez ES. Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics. 2000 May–Jun;20(3):837–855.Find this resource:

2. Turkbey B, Ocak I, Daryanani K, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009 Feb;39(2):100–111.Find this resource: