Radiology Case of the Week: 11/12/2012

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Derived from: Pediatric Imaging: A Teaching File

View PDF: Case of the Week Thapa4.3

 Clinical History: Family history of cystic renal disease

Findings: Coronal CT of the abdomen with contrast (A) and sagittal US (B) of the right kidney show multiple simple renal cysts of varying sizes (arrow) in the cortex and medulla.

Differential Diagnosis: Autosomal Dominant Polycystic Kidney Diseases (ADPKD), Tuberous Sclerosis, Von Hippel Lindau, Autosomal Recessive Polycystic Kidney Disease

Diagnosis:  ADPDK

Discussion: ADPKD is a systemic disease that is dominantly inherited. Characteristically, it presents with renal and extrarenal cyst development in an age-dependant manner.  The development of multiple renal cysts results in gradual, slow enlargement of the kidneys. These cysts communicate directly with the collecting ducts and the nephrons.  Progressive cystic replacement of the renal parenchyma results in hematuria, hypertension and renal insufficiency. ADPKD has a highly variable disease progression, with onset of end stage renal disease ranging from childhood to old age. (1)

Questions for further thought:

  1. What are common associated findings?
  2. What is the cause for hypertension?
  3. Is there an increased incidence of Renal Cell Carcinoma?

Reporting Responsibilities:

  • Number, size and location of renal cysts
  • Presence or absence of cysts in liver, pancreas and spleen
  • Presence or absence of cysts complications including hemorrhage, infection or calcification

What the Treating Physician Needs to Know:

  • Generally, this disease presents in the fourth or fifth decade of life with hematuria or hypertension
  • If clinically symptomatic in the neonate, the kidneys can be echogenic and enlarged with small cysts making it indistinguishable from ARPCKD. (2)
  • Establishing if at least one affected family member is a first-degree relative is key to the diagnosis. However, up to 50% of patients have no family history of the disease
  • Renal failure develops in 50% patients (3)

Answers:

  1. A. Liver (especially in women), pancreatic and splenic cysts

B. Cysts in thyroid, ovary, endometrium, seminal vesicles, lung, brain, pituitary, breast and epididymis

C. Cerebral berry aneurysms in approximately 10%

D. Abdominal aortic aneurysm

E. Colonic diverticula

  1. The attenuation and stretching of intrarenal vessels around cysts causes activation of the renin-angiotensin-aldosterone system (4)
  2. No. However, if they go on to dialysis then they have increased risk associated with cystic disease of dialysis (3)

 

References:

  1. Siegal MJ. Pediatric Sonography, 2nd ed. Philadelphia: Lippincott-Raven, 1996; 377-378
  2.  Pei Y. Diagnostic Approach in Autosomal Dominant Polycystic Disease Clin J Am Soc Nephrol  2006 1: 1108-1114
  3. Currie R, Freeman S, McGonigle MD,  Polycystic kidneys: a cautionary story British Journal of Radiology 2007; 80; 305-309
  4. Chapman ABN, Johnson A, Gabow PA, Schrier AW. The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease. N Engl J Med 1990; 323:1091-1096


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