Autosomal Dominant Polycystic Kidney Disease

July 1, 2014

Case History: 45-year-old female with vague pain in the abdomen.

Case History: A 45-year-old female presented with vague pain in the abdomen. A USG was ordered, which revealed that both kidneys were enlarged and had innumerable cysts with minimal intervening parenchyma (Figure 1A and 1B). An ill-defined hyperechoic area with posterior acoustic shadowing was seen in the left kidney. The ureters and bladder were normal. A few similar cysts were also seen in the liver (Figure 2). The findings were confirmed on a plain CT scan which revealed bilateral nephromegaly and cysts in both kidneys and the liver. Multiple calculi were also seen in the in the left kidney (Figures 3-5). No cysts were identified in the pancreas and spleen. Features were suggestive of autosomal dominant polycystic kidney disease.

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Figure 1 A and B. Ultrasound image shows that the right and left kidney are enlarged in size and have innumerable cysts. No definite renal parenchyma is identified. Ill-defined shadowing is seen in the left kidney.

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Figure 2. Ultrasound of the liver shows cysts in the liver.

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Figure 3. Non-contrast CT scan axial sections reveal multiple cysts in the liver and kidney. Multiple calculi are also noted at the lower pole of the left kidney.

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Figure 4. Non-contrast CT scan axial sections reveal multiple cysts in the liver and kidney. Multiple calculi are also noted at the lower pole of the left kidney.

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Figure 5. Non-contrast CT scan axial sections reveal multiple cysts in the liver and kidney. Multiple calculi are also noted at the lower pole of the left kidney.

Diagnosis: Autosomal dominant polycystic kidney disease

Incidence

  • 1 in 400-1,000 persons in U.S.
  • M:F- 1:1
  • Presents late in life: 30-50 years (as compared to ARPKD which presents in early childhood)
  • Presentation
  • Asymptomatic
  • Flank pain
  • Rarely hypertension and renal failure

Inheritance

  • Autosomal dominant (90 percent); spontaneous mutations (10 percent)
  • Chromosomes: 16 and 4

Associated abnormalities:

  • Non cystic
  • Cerebral berry aneurysms
  • Intracranial dolichoectasia: hypertension: up to 80 percent adults
  • Colonic diverticulosis
  • Hernias
  • Bicuspid aortic valve
  • Mitral valve prolapse
  • Aortic dissection
  • Cystic
  • Liver: most common, 75 percent by age 60
  • Ovaries
  • Spleen
  • Seminal vesicles
  • Prostate
  • Pancreas

Imaging

IVP

  • Plain film  
  • Increased renal size with curvillinear wall calcification
  • Renal calculi
  • "Swiss cheese" pattern: smoothly marginated radiolucencies in cortex and medulla seen on nephrographic phase
  • Smooth, bosselated renal contour
  • Normal or effaced collecting system


USG

  • Investigation of choice
  • Shows increased renal size, innumerable cysts in both kidneys
  • Simple cysts will have anechoic walls with posterior acoustic enhancement
  • Hemorrhagic cysts show echogenic material devoid of blood flow

CT


Type of cystNon contrast CTCECT
UncomplicatedHypodense cysts (water attenuation) + thin wallNo enhancement
HemorrhagicHyperdense; Perinephric hematomas; Mural calcificationHypodense as compared to normal renal parenchyma
InfectedHypodense; Thick irregular cyst wallWall enhancement

CT will also confirm the presence of cysts in other organs.

MR Findings

  • T1: Hypointense
  • T2: Hyperintense
  • Post contrast: no contrast enhancement in simple cysts

Differentials for Multiple Cysts

  • Multiple simple cysts:
  • Usually older presentation
  • No nephromegaly
  • Fewer cysts

No family history of renal cystic disease

  • Cysts are not found in other organs
  • Von Hippel-Lindau disease
  • Multiple renal and pancreatic cysts, pheochromocytomas, and frequently multiple and bilateral RCCs
  • Associated lesions include retinal angiomas and cerebellar hemangioblastomas
  • Cysts are less numerous
  • Pancreatic cysts are more common
  • Tuberous sclerosis
  • Multiple renal cysts and multiple fat containing angiomyolipoma
  • Cutaneous, retinal and cerebral hamartomas are associated
  • Acquired uremic cystic kidney disease
  • Development of multiple cysts in the native kidneys of patients on long-term hemodialysis
  • Affected kidneys are usually small, reflecting the chronic renal disease
  • Cysts are predominantly cortical and rarely exceed 2cm

 

References
1. Weerakkody Y, Gilliard. Autosomal dominant polycystic kidney disease.http://radiopaedia.org/articles/autosomal-dominant-polycystic-kidney-disease-1. Accessed November 25, 2013.
2. Federle M, Jeffrey R, Desser T, Anne V, Eraso A, et al. Diagnostic Imaging: Abdomen, 1st edition. Salt Lake City, UT: Amirsys; 2004.
3. Brant W, Helms C. Fundamentals of Diagnostic Radiology. 3rd Edition. Philadelphia: Lippincott Williams and Wilkins; 2005. Chapter 33, Adrenal Glands and Kidneys.