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Polycystic kidney disease differentiating polycystic kidney disease from other diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2]

Overview[edit | edit source]

Autosomal dominant and autosomal recessive polycystic kidney disease must be differentiated from other diseases that cause renal cysts, such as simple renal cysts, medullary sponge kidney, tuberous sclerosis complex, von Hippel-Lindau disease.

Differentiating Polycystic kidney disease from other Diseases[edit | edit source]

Autosomal dominant and autosomal recessive polycystic kidney disease must be differentiated from other diseases that may cause renal cysts, such as simple renal cysts, medullary sponge kidney, tuberous sclerosis complex, von Hippel-Lindau disease.

Differentiating polycystic kidney disease from other diseases[edit | edit source]

Diseases Clinical manifestations Para–clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging Histopathology
Flank/abdominal pain Polyuria Hematuria Hepatomegaly Bilateral flank masses Hypertension Urinalysis Ultrasound CT scan
Autosomal dominant polycystic kidney disease (ADPKD)[1] + + + + + + Ultrasound Extrarenal manifestations:
Autosomal recessive polycystic kidney disease (ARPKD)[2] + + + + + + Ultrasound Extrarenal manifestations:
Simple renal cyst[3] – – – – + – –
  • Normal sized kidneys
  • Smooth contour
 – –
  • Negative family history of renal cystic disease
  • Age ≥ 30 yrs
Medullary sponge kidney[4][5] + +/– + – + – –
Tuberous sclerosis complex[6][7] +/– +/– +/– – + – –
  • CT kidneys will differentiate cystic and solid lesions, as well as renal angiomyolipomas
  • CT brain shows:
  • Cortical hamartomas
  • White matter lesions
 –
Von Hippel-Lindau disease[8][9] + +/– + – + – –
  • Differentiates simple from complex cysts
 CT scan
Disease Symptoms Signs Diagnosis
Abdominal Pain Hematuria Headache Abdominal mass Abdominal tenderness Ultrasonography CT scan Histology
Polycystic kidney disease + + + (from hypertension) + –

Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:[10][11]

  • At least three unilateral or bilateral cysts in patients 15 – 39 years old
  • Atleast two cysts in each kidney in patients 40 – 59 years old
  • Atleast four cysts in each kidney in patients 60 years of age or older

Renal CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:

  • Numerous renal cysts of varying size and shape with little intervening parenchyma with water attenuation and very thin wall.
  • Reduction in sinus fat due to expansion of the cortex
  • Occasional complex cysts with hyperdense appearance, with possible septations or calcifications
  • Multiple homogeneous and hypoattenuating cystic lesions in the liver in patients with liver involvement
  • On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.[12][13][14][15]
Wilms tumor + + – + +
  • Wilms tumor has a triphasic appearance.
  • It is comprised of 3 types of cells:
  • All the 3 types are not required for the diagnosis of Wilms tumor.
  • Primitive tubules and glomeruli are often seen comprised of neoplastic cells.
  • Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.[19]
Renal cell carcinoma + + +/– + –
  • Ultrasound (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell carcinomas are detectable on ultrasound.
 Both CT and MRI may be used to detect neoplastic masses that may define renal cell carcinoma or metastasis of the primary cancer. CT scan and use of intravenous (IV) contrast is generally used for work–up and follow–up of patients with renal cell carcinoma. The histological pattern of renal cell carcinoma depends whether it is papillary, chromophobe or collecting duct renal cell carcinoma.
Rhabdoid kidney disease + + – + –
  • CT scan may be diagnostic of malignant rhabdoid tumor. Findings on CT scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous hemorrhage or necrosis. Enhancement is similarly heterogeneous. Calcification is relatively common, observed in 20–50% of cases and is typically linear and tends to outline tumor lobules.
  • Malignant rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.
Pheochromocytoma – – + (as a part of the hypertension paroxysm) – –
  • CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
 The following findings may be observed on CT scan:[20]
  • On microscopic pathology, Pheochromocytoma typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well–defined clusters of tumor cells containing eosinophilic cytoplasm separated by fibrovascular stroma.
Burkitt lymphoma +/– (in non–endemic or sporadic form of the disease) – – – –
  • Chest, abdomen, and pelvis CT scan may be helpful in the diagnosis of Burkitt's lymphoma but it is not done routinely.[24]
  • On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:[25]
  • Medium–sized (~1.5–2x the size of a RBC) with uniform size ("monotonous") –– key feature (i.e. tumor nuclei size similar to that of histiocytes or endothelial cells)
  • Round nucleus
  • Small nucleoli
  • Relatively abundant cytoplasm (basophilic)
  • Brisk mitotic rate and apoptotic activity
  • Cellular outline usually appears squared off
  • "Starry–sky pattern":
  • The stars in the pattern are tingible–body macrophages (macrophages containing apoptotic tumor cells.
  • The tumour cells are the sky
Intussusception + – – +/– +
  • Ultrasound is the gold standard imaging modality used to diagnose intussusception[26]
    • Target or doughnut sign[27]
      • Edematous intussuscipien forms an external ring around the centrally located intussusceptum
      • Target sign is usually seen in right lower quadrant
    • Layers of intussusception forms pseudo–kidney appearance on the transverse view
  • CT scan may be helpful in the diagnosis of intussusception. CT scan maybe used when other image modalities like x–ray and ultrasound have not given positive results but suspicion of intussusception is high.
  • Intussusception occurs if there is an imbalance between the longitudinal and radial smooth muscle forces of intestine that maintain its normal structure. This imbalance leads to a segment of intestine to invaginate into another segment and cause entero–enteral intussusception. Etiology of intussusception is either idiopathic or pathologic (lead point). 
Hydronephrosis + +/– – – + (CVA tenderness in case of pyelonephritis)
  • In the case of renal colic (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing hydronephrosis as well as demonstrating the function of the other kidney. Many stones are not visible on plain x ray or IVU but 99% of stones are visible on CT and therefore CT is becoming a common choice of initial investigation.
  • The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.
Dysplastic kidney N/A N/A N/A N/A N/A

MCDK is usually diagnosed by ultrasound examination before birth.

  • Mass of non–communicating cysts of variable size.
  • Unlike severe hydronephrosis, in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.
  • Dysplastic, echogenic parenchyma may be visible between the cysts, but no normal renal parenchyma is seen.
  • MCKD can be discovered accidentally on CT scan.
  • CT scan shows myltiple cysts with absence of renal parenchyma.
  • MCKD is the result of abnormal differentiation of the renal parenchyma.
Pediatric Neuroblastoma + – – +/– +/–
  • CT scan is the investigation of choice for the diagnosis of neuroblastoma.[29]
  • On CT scan, neuroblastoma is characterized by:[30]
  • On microscopic histopathological analysis the presence of round blue cells separated by thin fibrous septa are characteristic findings of neuroblastoma.
  • Other findings of neuroblastoma on light microscopy may include:[31]
  • Homer–Wright rosettes (rosettes with a small meshwork of fibers at the center)
  • Neuropil–like stroma (paucicellular stroma with a cotton candy–like appearance)
Pediatric Rhabdomyosarcoma + +/– +/– – +/– On CT scan, rhabdomyosarocma is characterized by:
  • Soft tissue density
  • Some enhancement with contrast
  • Adjacent bony destruction (over 20% of cases)
Mesoblastic nephroma + + – + –
  • Ultrasound may be helpful in the diagnosis of mesoblastic nephroma.
  • Mesoblastic nephroma may presents as a well–defined mass with low–level homogeneous echoes.[32]
  • The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of mesoblastic nephroma.
  • CT scan may be helpful in the diagnosis of mesoblastic nephroma.
  • Findings on CT scan suggestive of mesoblastic nephroma include:
  • Solid hypoattenuating renal lesion
  • Variable contrast enhancement
  • No calcification

Classic mesoblastic nephroma

Cellular mesoblastic nephroma

  • Plump cells with vesicular nuclei
  • Well–defined border
  • Mitotically active

Mixed mesoblastic nephroma

  • Both classic pattern and cellular pattern areas are present

References[edit | edit source]

  1. ↑ Gabow PA (July 1993). "Autosomal dominant polycystic kidney disease". N. Engl. J. Med. 329 (5): 332–42. doi:10.1056/NEJM199307293290508. PMID 8321262.
  2. ↑ Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC (January 2006). "Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)". Medicine (Baltimore). 85 (1): 1–21. doi:10.1097/01.md.0000200165.90373.9a. PMID 16523049.
  3. ↑ Ravine D, Gibson RN, Donlan J, Sheffield LJ (December 1993). "An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases". Am. J. Kidney Dis. 22 (6): 803–7. PMID 8250026.
  4. ↑ Gambaro G, Feltrin GP, Lupo A, Bonfante L, D'Angelo A, Antonello A (February 2006). "Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s". Kidney Int. 69 (4): 663–70. doi:10.1038/sj.ki.5000035. PMID 16395272.
  5. ↑ Levine E, Hartman DS, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC (August 1997). "Current concepts and controversies in imaging of renal cystic diseases". Urol. Clin. North Am. 24 (3): 523–43. PMID 9275977.
  6. ↑ Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K (2008). "Pictorial review of tuberous sclerosis in various organs". Radiographics. 28 (7): e32. doi:10.1148/rg.e32. PMID 18772274.
  7. ↑ Manoukian SB, Kowal DJ (May 2015). "Comprehensive imaging manifestations of tuberous sclerosis". AJR Am J Roentgenol. 204 (5): 933–43. doi:10.2214/AJR.13.12235. PMID 25905927.
  8. ↑ Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA (November 1990). "Clinical features and natural history of von Hippel-Lindau disease". Q. J. Med. 77 (283): 1151–63. PMID 2274658.
  9. ↑ Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (June 2003). "von Hippel-Lindau disease". Lancet. 361 (9374): 2059–67. doi:10.1016/S0140-6736(03)13643-4. PMID 12814730.
  10. ↑ Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC (July 2015). "Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference". Kidney Int. 88 (1): 17–27. doi:10.1038/ki.2015.59. PMC 4913350. PMID 25786098.
  11. ↑ Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D (January 2009). "Unified criteria for ultrasonographic diagnosis of ADPKD". J. Am. Soc. Nephrol. 20 (1): 205–12. doi:10.1681/ASN.2008050507. PMC 2615723. PMID 18945943.
  12. ↑ Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC (October 2002). "Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families". Kidney Int. 62 (4): 1385–94. doi:10.1111/j.1523-1755.2002.kid581.x. PMID 12234310.
  13. ↑ Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS (March 2014). "Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1". Clin J Am Soc Nephrol. 9 (3): 527–35. doi:10.2215/CJN.06380613. PMC 3944763. PMID 24509297.
  14. ↑ Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D (October 2011). "Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood". Kidney Int. 80 (7): 768–76. doi:10.1038/ki.2011.225. PMID 21775974.
  15. ↑ Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (June 2010). "Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases". Clin J Am Soc Nephrol. 5 (6): 1079–90. doi:10.2215/CJN.06810909. PMC 2879303. PMID 20378641.
  16. ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
  17. ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
  18. ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
  19. ↑ Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN (November 1975). "Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases". Adv Vet Sci Comp Med. 19 (23): 1–21. PMID 1978.
  20. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  21. ↑ Whalen RK, Althausen AF, Daniels GH (1992). "Extra-adrenal pheochromocytoma". J Urol. 147 (1): 1–10. PMID 1729490.
  22. ↑ Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT; et al. (2009). "Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma". Ann Intern Med. 150 (1): 27–32. PMC 3490128. PMID 19124817.
  23. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  24. ↑ Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
  25. ↑ Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L (2003). "Burkitt's lymphoma: new insights into molecular pathogenesis". J. Clin. Pathol. 56 (3): 188–92. PMC 1769902. PMID 12610094. Unknown parameter |month= ignored (help)
  26. ↑ Ko HS, Schenk JP, Tröger J, Rohrschneider WK (2007). "Current radiological management of intussusception in children". Eur Radiol. 17 (9): 2411–21. doi:10.1007/s00330-007-0589-y. PMID 17308922.
  27. ↑ Boyle MJ, Arkell LJ, Williams JT (1993). "Ultrasonic diagnosis of adult intussusception". Am. J. Gastroenterol. 88 (4): 617–8. PMID 8470658.
  28. ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  29. ↑ Colon NC, Chung DH (2011). "Neuroblastoma". Adv Pediatr. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
  30. ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  31. ↑ Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015
  32. ↑ Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma

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