Medullary cystic disease complex

Case contributed by Dr Jose Antonio Habana

Presentation

Evaluation for increased serum creatinine, presented with lethargy

Patient Data

Age: 3 years
Gender: Female
Ultrasound

Renal ultrasound

The kidneys are enlarged for age (right = 8.3 x 4.3 x 4.0 cm, left = 9.1 x 3.5 x 3.5 cm). Multiple small cysts located in the medulla and corticomedullary junctions, with sparing of the cortices. Scattered punctate calcifications in the medulla. Cortical echogenicity is increased. No ectasia.

Case Discussion

Medullary cystic disease complex may manifest in the infantile, juvenile, or early adulthood periods. Cysts may be microscopic or macroscopic and predominantly involve the medulla or corticomedullary junctions. It is the most common cause of end-stage renal disease in this age group and is caused by genetic mutations. 

In the infantile type, the kidneys may be enlarged on presentation, as in this case. In the juvenile or adult type, they are often small or normal-sized.

Ultrasound is the modality of choice for initial imaging and for follow-up imaging.

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