eMedicine Specialties > Radiology > Genitourinary
Autosomal Dominant Polycystic Kidney Disease: Imaging
Updated: Dec 23, 2008
Radiography
Plain radiograph of the kidney, ureters, and bladder in a 50-year-old woman with adult-type polycystic kidney disease. The kidneys are enlarged with multiple, curvilinear, and ringlike calcifications arising from the renal cyst. The surgical clip from renal transplant is seen projected over the left iliac wing.
Excretory 30-minute urographic image in a patient with polycystic kidney disease. The kidneys are enlarged with an elongated, splayed, and distorted collecting system resulting from the presence of innumerable cysts. Note bilateral avascular necrosis of the femoral heads.
Findings
- Plain radiographic findings are normal in the early stages of autosomal dominant polycystic kidney disease; however, with enlargement of the kidneys, soft-tissue masses that displace intra-abdominal organs may be seen.
- Renal enlargement is often asymmetrical.
- Usually, normal renal outlines cannot be traced.
- Cysts may calcify in a curvilinear, ringlike, or amorphous manner. The presence of renal calculi may signify urinary tract infection.
- In younger, asymptomatic patients, the kidneys may be smoothly enlarged, with normal collecting systems depicted by intravenous urography; eventually, however, the renal contour becomes lobulated.
- Nephrogram findings may have a characteristic Swiss cheese appearance resulting from numerous, smoothly marginated radiolucencies distributed throughout the renal cortex and medulla.
- The pelvocaliceal systems demonstrate bilateral, diffuse irregularity and splaying.
- The collecting system may be elongated, distorted, and attenuated.
- Large cysts may occasionally obstruct a calyx.
- Occasionally, cysts may rupture into the collecting system and appear, on intravenous urography or retrograde pyelography, as a contrast material – filled cavity communicating with a calyx.
- In ADPKD, the kidneys shrink with the onset of renal failure, after renal transplantation, or as a result of long-term hemodialysis.
- Uncommonly, patients with well-developed renal cysts, even patients with chronic renal failure, have normal-sized kidneys.
- Delayed, diffuse, nodular puddling of contrast material throughout the renal parenchyma has been reported in neonates with ADPKD. This phenomenon is said to be useful in differentiating ADPKD from ARPKD. In ARPKD, the nephrogram usually shows striation with persistent radiating opaque streaks on delayed images (sunburst nephrogram).
- Retrograde pyelography may demonstrate normal findings when the cysts are small. With larger cysts, this modality may reveal splaying, effacement, and, uncommonly, dilatation of the calyces and the renal pelvis. Some cysts may fill with contrast material.
Degree of Confidence
Plain abdominal radiographs have low specificity and generally are not recommended in the workup of patients with autosomal dominant polycystic kidney disease. In earlier studies on young children, intravenous urography and nephrotomography were shown to be slightly more sensitive than ultrasonography; however, ultrasonographic technology has improved tremendously, and, with state-of-the-art sonographic machines, cysts that are a few millimeters in size can be depicted. Differentiating between multiple simple renal cysts and the cysts of ADPKD may be difficult with intravenous urography.
False Positives/Negatives
Detectable on plain radiographs, nephromegaly may result from causes other than autosomal dominant polycystic kidney disease. Similarly, curvilinear calcification may occur in simple renal cysts and tumors. Simple renal cysts with nongenetic origins can resemble ADPKD cysts, as can lesions arising from von Hippel – Lindau disease or tuberous sclerosis.
Computed Tomography
Unenhanced axial computed tomography scan of the abdomen in a 45-year-old woman with adult polycystic kidney disease. The scan shows numerous cysts of different sizes involving the kidneys, liver, and pancreas.
Contrast-enhanced computed tomography scan in a 45-year-old woman with adult polycystic kidney disease (same patient as in Image above) clearly demonstrates the cysts in the head of the pancreas.
Findings
- On CT scans, the cysts are fairly well-defined, round or oval masses with low attenuation values similar to those of water.
- After the intravenous administration of iodinated contrast material, cysts do not enhance but stand out prominently against normally enhancing background renal tissue.
- Obstruction of a calyx or, rarely, the renal pelvis may occur. In the early disease stages, renal size may be normal and the reniform shape of the kidneys is well maintained.
- With advancing disease, the size and number of cysts increase and the renal outline may become scalloped, with the cyst projecting beyond the renal outline.
- With end-stage renal disease, unenhanced CT scans may depict curvilinear or amorphous calcification within the walls of the cyst. Renal calculi are well depicted on CT scans.
- Acute hemorrhage into a cyst is shown as a high-attenuation mass on unenhanced scans in patients presenting with acute flank pain. These hemorrhagic cysts are usually subcapsular. With time, the hemorrhage resolves and the attenuation of the cystic contents is reduced.
- Spontaneous hemorrhage into the retroperitoneum is a known complication that is demonstrated readily on CT scans.
- Infected cysts usually have thick, irregular walls that often calcify. The attenuation value of an infected cyst is slightly higher than that of water; the value may vary within the cyst because of the presence of debris.
- Localized thickening of the Gerota fascia may be associated with cyst infection and renal abscess.
Degree of Confidence
CT scanning is a sensitive modality for examining cystic kidney disease; however, problems may arise with smaller cysts, which may not be easily differentiated from small, solid masses. Occasionally, differentiation of chronically infected cysts from a necrotic tumor also may be difficult. CT scanning appears to be more specific than sonography in differentiating an obstructed renal pelvis from a parapelvic cyst on the basis of contrast excretion pattern. It is also useful in helping assess retroperitoneal rupture of a cyst and perinephric extension of blood or pus from an infected cyst.
False Positives/Negatives
As with images derived from intravenous urography, CT scans of lesions associated with autosomal dominant polycystic kidney disease can resemble those of simple renal cysts of nongenetic etiology, as well as CT scans of cysts associated with either von Hippel–Lindau disease or tuberous sclerosis.
Magnetic Resonance Imaging
Findings
- Renal cysts show a homogeneous, low-to-intermediate signal intensity on T1-weighted images and a homogeneous, high signal intensity on T2-weighted images.
- Cysts have thin, imperceptible walls. Renal cysts do not enhance with gadolinium-based contrast material.
- Gadolinium-based contrast agents (gadopentetate dimeglumine [Magnevist], gadobenate dimeglumine [MultiHance], gadodiamide [Omniscan], gadoversetamide [OptiMARK], gadoteridol [ProHance]) have been linked to the development of nephrogenic systemic fibrosis (NSF) or nephrogenic fibrosing dermopathy (NFD). The disease has occurred in patients with moderate to end-stage renal disease after being given a gadolinium-based contrast agent to enhance MRI or magnetic resonance angiography (MRA) scans.
- NSF/NFD is a debilitating and sometimes fatal disease. Characteristics include red or dark patches on the skin; burning, itching, swelling, hardening, and tightening of the skin; yellow spots on the whites of the eyes; joint stiffness with trouble moving or straightening the arms, hands, legs, or feet; pain deep in the hip bones or ribs; and muscle weakness. For more information, see the FDA Public Health Advisory or Medscape.
- As they do when imaged in other modalities, kidneys affected by autosomal dominant polycystic kidney disease appear large on MRI scans and have irregular, distorted contours.
- Uncomplicated cysts resemble simple cysts.
- MRI can be used to help characterize renal cysts that are equivocal with other imaging modalities; such cysts include hyperintense cysts, hemorrhagic cysts, and cysts with calcification or septa.
- Cysts complicated by hemorrhage may look hyperintense on all image sequences, but appearances may depend on the age of the hemorrhage.
- Layering may be present with a recent intracystic bleed.
- Cysts complicated by infection or those with high protein content may present with an intermediate signal intensity on T1-weighted or T2-weighted images.
Degree of Confidence
MRI of the kidneys is becoming a useful technique for characterization of renal masses and can be used in addition to or instead of CT. MRI is especially useful in patients who are allergic to iodinated contrast media and in those with compromised renal function who are at risk for iodinated contrast–induced renal failure. MRI has the added advantage of multiplanar imaging and does not require the use of ionizing radiation. Moreover, MRI is probably superior to other modalities in characterizing complicated cysts.
False Positives/Negatives
As with images derived from intravenous urography and CT scanning, MRI scans of simple renal cysts of nongenetic etiology, as well as those of cysts associated with either von Hippel–Lindau disease or tuberous sclerosis, can resemble scans of lesions associated with autosomal dominant polycystic kidney disease.
Ultrasonography
Findings
Sonography is a valuable screening test for patients in whom polycystic disease is suspected.
- Most children with autosomal dominant polycystic kidney disease have normal ultrasonographic findings at birth.
- In neonates who are severely affected, the kidneys are large and echogenic, with loss of corticomedullary differentiation indistinguishable from that of ARPKD.
- When cysts are seen, they vary in size and are scattered throughout the cortex, including in medullar and subcapsular locations. By contrast, the peripheral cortex is spared in patients with mild ARPKD.
- Sequential examinations usually demonstrate an increase in cyst size and number over a period of years, resulting in calyceal distortion and irregularity of the renal outline.
- Cysts may have irregular walls and may show internal echoes if complications of hemorrhage or infection are present.
- Surviving islands of renal parenchyma may be seen between cysts.
- Calcification of cyst walls may be seen later in life.
- ADPKD is a rare occurrence in the fetus. The kidneys may be enlarged as a result of cystic dilatation of tubules and glomeruli, and this is associated with increased echogenicity mimicking autosomal recessive disease. Occasionally, the cortical cysts are large enough to be detected on ultrasonographic images; this can confirm the diagnosis when seen in the fetus of a parent with the disease. Since renal function in utero is adequate, oligohydramnios is not present.
- Cysts of the liver, pancreas, and spleen may help confirm the diagnosis of ADPKD.
Degree of Confidence
Ultrasonography is the procedure of choice in the workup of patients with autosomal dominant polycystic kidney disease. It is also an ideal modality for screening the family of patients with known disease and for routine follow-up monitoring of patients. Gardner and Evan have shown that individuals older than 40 years with a family history of ADPKD but without renal cysts are unlikely to develop the disease.27 Others have shown that when screening for evidence of ADPKD, if the kidney shows no signs of cysts or parenchymal abnormality in a patient by 19 years of age, that individual is extremely unlikely to be affected.
False Positives/Negatives
Renal cysts similar to those associated with autosomal dominant polycystic kidney disease can occur as simple renal cysts without genetic etiology or can arise in von Hippel–Lindau disease, in acquired uremic cystic disease (in which kidneys are small with no renal function), in patients on hemodialysis, or in patients who have had renal transplantation. In ARPKD, the kidneys are hyperechoic and enlarged, but the cysts are too small to be depicted on ultrasonographic images; however, discrete macroscopic cysts (usually <1 cm) occasionally are seen in patients with ARPKD.
Nuclear Imaging
Findings
Technetium-99m mercaptotriglycylglycine or other radionuclides are employed in isotope renography, which is a useful procedure for assessing renal function and avoiding the nephrotoxic effects of iodinated contrast media. On analog images, cysts are demonstrated as photon-deficient masses. Similarly, uptake of technetium-99m dimercaptosuccinic acid shows the cysts as multiple photon-deficient masses. Hepatic and splenic cysts also are photopenic on scans using technetium-99m sulfur colloid. Infected cysts, when scanned with granulocytes labeled with technetium-99m hexamethylpropyleneamine oxime, may demonstrate increased activity. Similarly, they may be avid for gallium-67 citrate.
Degree of Confidence
Although isotopic renography is an excellent modality for assessing absolute and relative renal function, its role in the diagnosis of autosomal dominant polycystic kidney disease is limited.
False Positives/Negatives
Multiple photon-deficient renal masses may occur with simple cysts, granulomas, abscesses, and multiple tumors.
Angiography
Findings
Angiographic criteria for cystic renal disease are well established. In the arterial phase, intrarenal arterial branches are stretched and displaced around the cysts. The cysts are seen as sharply defined, radiolucent masses. The cyst walls appear thin and smooth, and an acute angle is characteristic between the cyst and the normal renal cortex, forming a beak. In the nephrogram phase, avascular areas of varying sizes are demonstrated, giving rise to a Swiss cheese appearance, as on an intravenous urogram. Hemorrhagic and infected cysts may have abnormal vessels simulating the neovascularity of a neoplasm. Hepatic and splenic cysts appear as avascular masses on a flush aortogram or on selective visceral angiography.
Degree of Confidence
Angiography has a high degree of sensitivity in the diagnosis of autosomal dominant polycystic kidney disease, but its specificity is low.
False Positives/Negatives
Differentiation from simple renal cysts is not always possible; avascular tumors also may pose problems. Renal sinus fibrolipomatosis may superficially resemble cysts associated with autosomal dominant polycystic kidney disease.
More on Autosomal Dominant Polycystic Kidney Disease |
| Overview: Autosomal Dominant Polycystic Kidney Disease |
 Imaging: Autosomal Dominant Polycystic Kidney Disease |
| Follow-up: Autosomal Dominant Polycystic Kidney Disease |
| Multimedia: Autosomal Dominant Polycystic Kidney Disease |
| References |
| « Previous Page | Next Page » |
References
Higashihara E, Aso Y, Shimazaki J, Ito H, Koiso K, Sakai O. Clinical aspects of polycystic kidney disease. J Urol. Feb 1992;147(2):329-32. [Medline].
Itai Y, Ebihara R, Eguchi N, Saida Y, Kurosaki Y, Minami M, et al. Hepatobiliary cysts in patients with autosomal dominant polycystic kidney disease: prevalence and CT findings. AJR Am J Roentgenol. Feb 1995;164(2):339-42. [Medline].
Kaplan BS, Kaplan P, Rosenberg HK, et al. Polycystic kidney diseases in childhood. J Pediatr. Dec 1989;115(6):867-80. [Medline].
Milutinovic J, Fialkow PJ, Rudd TG, et al. Liver cysts in patients with autosomal dominant polycystic kidney disease. Am J Med. May 1980;68(5):741-4. [Medline].
Parfrey PS, Bear JC, Morgan J, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med. Oct 18 1990;323(16):1085-90. [Medline].
Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, et al. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol. Oct 1998;9(10):1853-60. [Medline].
Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Renal cystic diseases: a review. Adv Anat Pathol. Jan 2006;13(1):26-56. [Medline].
Masoumi A, Reed-Gitomer B, Kelleher C, Bekheirnia MR, Schrier RW. Developments in the management of autosomal dominant polycystic kidney disease. Ther Clin Risk Manag. Apr 2008;4(2):393-407. [Medline].
Rohatgi R. Clinical manifestations of hereditary cystic kidney disease. Front Biosci. May 1 2008;13:4175-97. [Medline].
Torres VE, Rossetti S, Harris PC. Update on autosomal dominant polycystic kidney disease. Minerva Med. Dec 2007;98(6):669-91. [Medline].
Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, et al. Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum Mutat. Jan 2004;23(1):99. [Medline].
Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Sep 2006;1(5):1108-14. [Medline].
Auranen M, Ala-Mello S, Turunen JA, Jarvela I. Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. Kidney Int. Oct 2001;60(4):1225-32. [Medline].
Deltas CC. Mutations of the human polycystic kidney disease 2 (PKD2) gene. Hum Mutat. 2001;18(1):13-24. [Medline].
Koptides M, Deltas CC. Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis. Hum Genet. Aug 2000;107(2):115-26. [Medline].
Bisceglia M, Galliani C, Carosi I, Simeone A, Ben-Dor D. Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: The TSC2/ADPKD1 Contiguous Gene Syndrome. Int J Surg Pathol. Jul 8 2008;[Medline].
Meijer E, de Jong PE, Peters DJ, Gansevoort RT. Better understanding of ADPKD results in potential new treatment options: ready for the cure?. J Nephrol. Mar-Apr 2008;21(2):133-8. [Medline].
Birewar S, Zawada ET Jr. Early onset polycystic kidney disease: how early is early?. S D J Med. Nov 2003;56(11):465-8. [Medline].
Dahnert W. Radiology Review Manual. 4th ed. Baltimore, Md: Lippincott Williams & Wilkins. 1999: 782.
Nakajima F, Shibahara N, Arai M, et al. Intracranial aneurysms and autosomal dominant polycystic kidney disease: followup study by magnetic resonance angiography. J Urol. Aug 2000;164(2):311-3. [Medline].
Schievink WI, Torres VE, Piepgras DG, Wiebers DO. Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. Jul 1992;3(1):88-95. [Medline].
Currie RJ, Freeman SJ, McCormick F, McGonigle RJ. Polycystic kidneys: a cautionary story. Br J Radiol. Dec 2007;80(960):e305-9. [Medline].
Gulanikar AC, Daily PP, Kilambi NK, et al. Prospective pretransplant ultrasound screening in 206 patients for acquired renal cysts and renal cell carcinoma. Transplantation. Dec 27 1998;66(12):1669-72. [Medline].
Torra R, Sarquella J, Calabia J, Martí J, Ars E, Fernández-Llama P, et al. Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. May 2008;3(3):790-3. [Medline].
Antiga L, Piccinelli M, Fasolini G, Ene-Iordache B, Ondei P, Bruno S, et al. Computed tomography evaluation of autosomal dominant polycystic kidney disease progression: a progress report. Clin J Am Soc Nephrol. Jul 2006;1(4):754-60. [Medline].
Perrone R. Imaging progression in polycystic kidney disease. N Engl J Med. May 18 2006;354(20):2181-3. [Medline].
Gardner KD Jr, Evan AP. Cystic kidneys: an enigma evolves. Am J Kidney Dis. May 1984;3(6):403-13. [Medline].
Almaden Y, Hernandez A, Torregrosa V, Canalejo A, Sabate L, Fernandez Cruz L, et al. High phosphate level directly stimulates parathyroid hormone secretion and synthesis by human parathyroid tissue in vitro. J Am Soc Nephrol. Oct 1998;9(10):1845-52. [Medline].
Bajwa ZH, Gupta S, Warfield CA, Steinman TI. Pain management in polycystic kidney disease. Kidney Int. Nov 2001;60(5):1631-44. [Medline].
Basaria S, Mehta NN. Renal and extrarenal autosomal dominant polycystic kidney disease. Postgrad Med J. Dec 2000;76(902):814. [Medline].
Chapman AB, Rubinstein D, Hughes R, Stears JC, Earnest MP, Johnson AM, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med. Sep 24 1992;327(13):916-20. [Medline].
Chatha RK, Johnson AM, Rothberg PG, et al. Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. Am J Kidney Dis. Apr 2001;37(4):852-8. [Medline].
Chauveau D, Fakhouri F, Grunfeld JP. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol. Sep 2000;11(9):1767-75. [Medline]. [Full Text].
Chicoskie C, Chaoui A, Kuligowska E, et al. MRI isolation of infected renal cyst in autosomal dominant polycystic kidney disease. Clin Imaging. Mar-Apr 2001;25(2):114-7. [Medline].
Fick-Brosnahan GM, Tran ZV, Johnson AM, et al. Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int. May 2001;59(5):1654-62. [Medline].
Grampsas SA, Chandhoke PS, Fan J, et al. Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis. Jul 2000;36(1):53-7. [Medline].
Grunfeld JP, Chauveau D, Joly D. Polycystic kidney disease: >. J Nephrol. Jul-Aug 1999;12 Suppl 2:S42-6. [Medline].
Keadle DM, Bauman JM, Billingsley JL. Nonvisualization of the liver on a Tc-99m sestamibi parathyroid scan. Clin Nucl Med. Nov 2000;25(11):921-2. [Medline].
Kondo A, Akakura K, Ito H. Assessment of renal function with color Doppler ultrasound in autosomal dominant polycystic kidney disease. Int J Urol. Mar 2001;8(3):95-8. [Medline].
Kwok CG, McDougall IR. Persistent fever in a patient with polycystic kidney and liver diseases and bilateral hip prostheses. J Nucl Med. Dec 1996;37(12):2062-5. [Medline].
Lilova MI, Petkov DL. Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease. Pediatr Nephrol. Dec 2001;16(12):1030-2. [Medline].
Martignoni G, Bonetti F, Pea M, et al. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol. Feb 2002;26(2):198-205. [Medline].
Milutinovic J, Agodoa LC, Cutler RE, et al. Autosomal dominant polycystic kidney disease. Early diagnosis and consideration of pathogenesis. Am J Clin Pathol. Jun 1980;73(6):740-7. [Medline].
Mizoguchi M, Tamura T, Yamaki A, et al. Genotypes of autosomal dominant polycystic kidney disease in Japanese. J Hum Genet. 2002;47(1):51-4. [Medline].
Nascimento AB, Mitchell DG, Zhang XM, et al. Rapid MR imaging detection of renal cysts: age-based standards. Radiology. Dec 2001;221(3):628-32. [Medline].
Neureiter D, Frank H, Kunzendorf U, et al. Dialysis-associated acquired cystic kidney disease imitating autosomal dominant polycystic kidney disease in a patient receiving long-term peritoneal dialysis. Nephrol Dial Transplant. Mar 2002;17(3):500-3. [Medline]. [Full Text].
Nicolau C, Torra R, Bianchi L, et al. Abdominal sonographic study of autosomal dominant polycystic kidney disease. J Clin Ultrasound. Jul-Aug 2000;28(6):277-82. [Medline].
Roy A, Soni GR, Kolhapure RM, Banerjee K, Patki PS. Induction of tumour necrosis factor alpha in experimental animals treated with hepatotoxicants. Indian J Exp Biol. Aug 1992;30(8):696-700. [Medline].
Sise C, Kusaka M, Wetzel LH, et al. Volumetric determination of progression in autosomal dominant polycystic kidney disease by computed tomography. Kidney Int. Dec 2000;58(6):2492-501. [Medline].
Somlo S, Markowitz GS. The pathogenesis of autosomal dominant polycystic kidney disease: an update. Curr Opin Nephrol Hypertens. Jul 2000;9(4):385-94. [Medline].
Further Reading
Keywords
autosomal dominant polycystic kidney disease, Potter type III disease, adult polycystic kidney disease, kidney disease, polycystic kidney disease, renal cyst, ADPKD, ADPCKD, renal failure, hypertension, impaired renal function, PKD1, PKD2, PKD3
