Case of the Week: December 14-December 21, 2007

Newborn and one week old,what is the diagnosis?

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Case Details

Markedly enlarged kidneys with loss of corticomedullary differentiation. The excretory urogram shows enlarged kidneys with delayed nephrograms and persistent contrast in the dilated tubules.

Answer

Diagnosis: AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISSEASE

A single gene disorder   (proximal chromosome 6p, polycystic kidney and hepatic disease 1 ) characterized by bilateral, symmetric cystic renal disease involving the distal convoluted tubules and collecting ducts. 

Risk of recurrence in subsequent pregnancies is 25%. 

The kidneys are 2-4 standard deviations above the mean size in majority of patients. 

1 in 20,000 births. 

Majority detected after 24 weeks.

Four types of Autosomal recessive polycystic kidney disease: Perinatal form: 90% of tubules involved.

 Neonatal form: 5O% of tubules.

 Infantile form: 25%  of renal tubules.

 Juvenile form: 10% of renal tubules involved and develop hepatic fibrosis and portal hypertension. 

Differential Diagnosis; 

Bilateral multicystic dysplastic kidney

 Autosomal dominant polycystic kidney 

Cystic renal dysplasia

 Meckel-Gruber syndrome- Encephalocele, Polycystic kidneys and polydactyly.

Tuberous sclerosis

Correct answers by users

VCU Resident
Radiology Pediatrics
Others
  • Gitanjali BajajIndia
  • Vidula GodhamgaonkarUnited Kingdom
  • Gregory KlischChad
  • Kahotek TündeHungary
    VCU Department of Pediatric Radiology Virginia Commonwealth University VCU Medical Center