Autosomal Dominant Polycystic Kidney Disease
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1 Case Studies [1] July 01, 2014 By Amar Udare, MBBS [2] 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. 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. Page 1 of 6
2 Figure 2. Ultrasound of the liver shows cysts in the liver. Page 2 of 6
3 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. 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. 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. Page 3 of 6
4 Diagnosis: Autosomal dominant polycystic kidney disease Incidence 1 in 400-1,000 persons in U.S. M:F- 1:1 Presents late in life: 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 Page 4 of 6
5 Type of cyst Uncomplicated Hemorrhagic Infected Non contrast CT Hypodense cysts (water attenuation) + thin wall Hyperdense; Perinephric hematomas; Mural calcification Hypodense; Thick irregular cyst wall CECT No enhancement Hypodense as compared to normal renal parenchyma Wall 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 No family cysts 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. Accessed November 25, Federle M, Jeffrey R, Desser T, Anne V, Eraso A, et al. Diagnostic Imaging: Abdomen, 1st edition. Salt Lake City, UT: Amirsys; Brant W, Helms C. Fundamentals of Diagnostic Radiology. 3rd Edition. Philadelphia: Lippincott Williams and Wilkins; Chapter 33, Adrenal Glands and Kidneys. Source URL: Page 5 of 6
6 Links: [1] [2] Page 6 of 6
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