eMedicine Specialties > Radiology > Genitourinary

Autosomal Dominant Polycystic Kidney Disease

Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP, Chairman of Medical Imaging, Professor of Radiology, NGHA, King Fahad National Guard Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Muthusamy Chandramohan, MBBS, DMRD, FRCR, Consultant Radiologist, Bradford Teaching Hospitals, UK; Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute

Updated: Dec 23, 2008

Introduction

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.

Sonogram of the right kidney in a patient with adult-type polycystic kidney disease. The scan shows numerous cysts of varying sizes, with a large cyst in the upper pole.

Background

Adult polycystic kidney disease, which affects approximately 1 in 1000 people, is transmitted as an autosomal dominant trait. Cysts arise from the nephrons and collecting tubules; microdissection reveals that the cysts communicate directly with the nephrons and collecting tubules. Islands of normal parenchymal renal tissue are interspaced between the cysts.

Patients present with hypertension and progressive renal failure after their third decade of life. Autosomal dominant polycystic kidney disease (ADPKD) is uncommon in children and is rarely seen in neonates. From 29% to 73% of patients with the disorder have associated hepatic cysts, 9% have associated pancreatic cysts, and 5% have associated splenic cysts; pulmonary cysts occur but are uncommon. These extrarenal manifestations are not found in neonates and children.^{1,2,3,4,5,6,7,8}

For excellent patient education resources, visit eMedicine's Kidneys and Urinary System Center. Also, see eMedicine's patient education article Blood in the Urine.

Related eMedicine topics:

Cystic Diseases of the Kidney (Urology)

Polycystic Kidney Disease

Polycystic Kidney Disease (Pediatrics)

Pathophysiology

Autosomal dominant polycystic kidney disease is an inherited condition comprising at least 3 phenotypically indistinguishable but genetically distinct entities.^9,10 The specific form that develops depends on which of 3 genes— PKD1, PKD2, or PKD3 —becomes mutated.^11,12 In 90% of patients, the affected gene is located on chromosome arm 16p; in 10% of patients, the disease arises from a spontaneous mutation.¹³ ADPKD is transmitted as an autosomal dominant trait, with almost 100% penetrance if patients live long enough. Because of the condition's variable expressivity and the incidence of spontaneous mutation, nearly 50% of patients have no family history of the disease. Defective polycystins appear to contribute to cyst formation by affecting epithelial cell maturation, resulting in the development of cysts of varying sizes in the cortex and medulla.^14,15,6 An association with tuberous sclerosis complex has been described.¹⁶

Histologically, ADPKD is characterized by an abnormal rate of tubule divisions, with hypoplasia of portions of tubules left behind as the ureteral bud advances. Cystic dilatation occurs in the Bowman capsule, loop of Henle, and proximal convoluted tubule, interspersed with normal renal tissue. Thus, in contrast to fluid from simple renal cysts, which is biochemically similar to plasma, the biochemical features of the fluid content of ADPKD cysts are closer to those of urine, particularly in samples that are taken from distal nephrogenic cysts. Cysts in ADPKD are lined with flattened or cuboidal epithelium. Stromal changes are those of renal failure and are nonspecific; dystrophic calcification is common.¹⁷

With minimal disease, the kidneys are smooth and of normal size; the cysts are discovered only on cut pathologic specimens. As the size of cysts increases, the kidneys enlarge, often asymmetrically, and may become bosselated and lose their reniform shape. The age of patients at onset of cyst formation varies; 54% of cysts appear by the first decade of life, 72% by the second decade, and 86% by the third decade.¹⁸ By the age of 80 years, evidence of cyst formation exists in all persons who have the gene.¹⁹

True unilateral ADPKD is rare. (Most genetic diseases involving paired organs are bilateral.) Segmental ADPKD also is uncommon; some investigators, in fact, doubt the existence of the segmental form and suggest that it should not be considered a forme fruste of ADPKD. Segmental disease is neither inherited nor associated with renal failure. Rarely, ADPKD may be detected in utero, usually in the third trimester, although the earliest diagnosis recorded was at 14 weeks' gestation.

With small cysts, ADPKD can be confused with autosomal recessive polycystic kidney disease (ARPKD) because the kidneys may be enlarged and echogenic. Sometimes, the cortical cysts are large enough to be found on ultrasonographic images, which can confirm the diagnosis when cysts are demonstrated in the fetus of a parent with the disease.

As ADPKD progresses, impaired renal function ensues. Hypertension precedes renal failure. Extrarenal manifestations include liver cysts in 29-73% of patients, pancreatic cysts in 9%, and splenic cysts in 5%. Cysts have also been reported in the thyroid, parathyroid, lung, brain, pituitary gland, pineal gland, ovary, uterus, testis, seminal vesicles, epididymis, bladder, and peritoneum. Aneurysms of cerebral arteries (berry aneurysms) have been found in 3-50% of patients. A variety of cardiac and aortic abnormalities have been associated with ADPKD, including aortic root dilatation, aortic regurgitation, bicuspid aortic valves, coarctation of the aorta, mitral regurgitation, and abdominal aortic aneurysm.^20,21

Cysts vary in size from barely visible to several centimeters in diameter. They usually contain clear, straw-colored fluid, but hemorrhage into 1 or more cysts is common, which may change the fluid's gross, biochemical, and histologic character. Cysts can become infected, and aspiration of the fluid may reveal purulent contents. Incidence of renal cell carcinoma is only slightly increased in patients with ADPKD; a greater rise in incidence is associated with cystic disease of dialysis.

Approximately 50 cases of renal cell carcinoma have been reported in association with polycystic kidneys; some of the cases were associated with von Hippel–Lindau disease and tuberous sclerosis.²² No correlation exists between the severity of renal disease and the number of liver cysts. Liver function usually remains normal in ADPKD, but with longer survival of patients with ADPKD, liver function abnormalities may occur, particularly in individuals with portal hypertension. An association between ADPKD and congenital hepatic fibrosis has been described.²³

Frequency

United States

One in 1000 people carry the trait for autosomal dominant polycystic kidney disease, making it the most common genetically linked renal disorder. There are 200,000-400,000 persons with ADPKD in the United States, with approximately 6000 new cases occurring each year. About 10-12% of patients receiving maintenance hemodialysis have ADPKD.

International

To the authors' knowledge, no accurate figures are available regarding the international incidence and prevalence of autosomal dominant polycystic kidney disease.

Mortality/Morbidity

• By 60 years of age, most patients with autosomal dominant polycystic kidney disease experience renal failure.
• Hypertension predates renal failure. Complications of hypertension secondary to ADPKD are similar to those of essential hypertension. Patients who are normotensive at presentation have a better prognosis in terms of survival.
• Infections, hemorrhage, cyst rupture, and renal calculus disease are recognized complications of ADPKD.
• Results of experimental studies have suggested that cystic kidneys become infected more easily than noncystic kidneys. The urinary tract is at particular risk of serious infections in ADPKD, which adds considerably to morbidity and mortality.
• Rarely, massive intracystic or retroperitoneal hemorrhage can occur; these require nephrectomy.
• Before the availability of renal dialysis and renal transplantation, most patients died within 10 years after the onset of symptoms.
• Liver and other extrarenal cysts seldom cause symptoms; however, with longer survival of patients with ADPKD, liver impairment may cause increased morbidity and mortality rates. Rare complications of hepatic cystic disease include cyst hemorrhage, infection, portal hypertension, biliary obstruction from cystic mass effect, and cholangiocarcinoma.
• The variety of cardiac and aortic problems associated with ADPKD may add to morbidity and mortality.
• Approximately 10% of patients with ADPKD die of a ruptured, intracranial berry aneurysm.

Race

No race predilection for autosomal dominant polycystic kidney disease exists.

Sex

No sex preponderance for autosomal dominant polycystic kidney disease exists.

Age

Patients of any age can be affected with autosomal dominant polycystic kidney disease, but the mean age at diagnosis is 43 years. In rare cases, renal cysts are incidentally discovered in people aged 70-90 years.

Presentation

Sonogram of the kidney in a patient with polycystic kidney disease shows numerous cysts of varying sizes.

Sonogram of the liver (same patient as in Image above) shows multiple cysts. Approximately 29-73% of patients with adult-type polycystic disease have cysts in the liver.

Excretory 5-minute urographic image in a young male patient with bilateral polycystic disease. The calyces are elongated and splayed because of the cysts, seen best on the right. Note the large size of both kidneys.

Aortogram (same patient as in Image above) demonstrates stretching of the intrarenal arterial branches, seen best in the upper pole of the right kidney.

Renal failure ultimately occurs in most patients by age 60 years. Persons may present with fever, dysuria, and leukocytosis as a result of urinary tract infections. Renal and/or ureteric colic from calculi is a known complication. Hemorrhage, which can be intracystic or retroperitoneal, may present with hematuria, abdominal pain, and, rarely, massive hemorrhagic shock or anemia. Polycythemia is a rare, but known, association secondary to increased erythropoietin production. Rarely, intracystic hemorrhage within a liver cyst may cause acute abdominal pain, mimicking acute cholecystitis. Urinalysis may reveal proteinuria and hematuria.

Seminal tract cysts are seen in 43.5% of patients with ADPKD; however, this finding does not correlate with sperm abnormalities, which are also a frequent finding, especially asthenozoospermia. This semen abnormality is probably related to the abnormal function of polycystins. Thus, the reproductive aspects of patients with ADPKD need early evaluation before the ability to conceive is further impaired by uremia.²⁴

Preferred Examination

Sonogram of the right kidney in a patient with adult-type polycystic kidney disease. The scan shows numerous cysts of varying sizes, with a large cyst in the upper pole.

Selective renal arteriogram (same patient as in Image above). A large filling defect is demonstrated in the upper pole of the right kidney, forming an acute angle with the normal renal cortex that results in a characteristic beak appearance.

Sonogram of the liver in a newborn with polycystic kidney disease shows numerous tiny cysts affecting both lobes of the liver.

Sonogram of the kidney in a newborn (same patient as in Image above) shows numerous cysts of varying sizes predominantly situated in the periphery.

Computed tomography (CT) scanning is as sensitive as ultrasound in the detection of cystic disease, although problems may arise with smaller cysts. CT scanning appears to be more specific than sonography in differentiating an obstructed renal pelvis from a parapelvic cyst. It also seems to be superior to ultrasonographic images in helping assess retroperitoneal rupture of a cyst and perinephric extension of blood or pus from an infected cyst.^25,26

Magnetic resonance imaging (MRI) is especially useful for examining patients who are allergic to iodinated contrast media and those with compromised renal function who are at risk for iodinated contrast – induced renal failure. MRI also has advantages for patients in whom hemorrhagic cysts are considered and is probably superior to other modalities in characterizing complicated cysts.

The role of angiography in the diagnosis of ADPKD is limited. Although angiography has a high degree of accuracy in diagnosing ADPKD, its specificity is low.

Radionuclide studies have a complementary role in the assessment of renal function in ADPKD. These studies do not have the added hazard of patient exposure to iodinated contrast material.

Limitations of Techniques

Nephromegaly, which can be detected on plain radiographs, may result from causes other than autosomal dominant polycystic kidney disease. Similarly, curvilinear calcification is not specific for ADPKD and may be found in other types of cysts, as well as in tumors and granulomas. Simple renal cysts with nongenetic origins may be similar to ADPKD lesions. Also, cysts associated with ADPKD cannot always be differentiated from multiple simple cysts and cysts associated with von Hippel – Lindau disease or tuberous sclerosis. Such findings apply to intravenous urography, ultrasonography, CT scanning, MRI, and angiography.

Differential Diagnoses

Autosomal Recessive Polycystic Kidney Disease
Kidney, Lymphoma
Multilocular Cystic Nephroma
Tuberous Sclerosis
Von Hippel-Lindau Syndrome

Other Problems to Be Considered

Any cause of multiple intrarenal fluid collections
Hydrocalycosis, particularly if the renal pelvis is not dilated
Multiple hypoechoic and/or anechoic nodes (eg, lymphoma)
Acquired renal cystic disease

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.

Intervention

Image-guided aspiration of a cyst in which infection is suspected may confirm the diagnosis of autosomal dominant polycystic kidney disease, provide tissue for culture and sensitivity, and eventually provide a route for percutaneous drainage. Large uninfected cysts causing pressure effects also can be aspirated. Transcatheter embolization may be considered for a ruptured cyst with active bleeding.

Medicolegal Pitfalls

• Imaging features of an acutely infected cyst usually are those of a simple cyst; however, if infection is acute or chronic, imaging features may be those of an abscess or necrotic tumor.
  • Differentiating an infected simple cyst from an abscess may be extremely difficult, both clinically and on imaging. In both lesions, evidence may exist of infected debris.
  • In addition, calcification may occur in both.
• Aspiration of simple cysts causing pressure effects should be performed with extra care because cysts are particularly prone to infection.
• With currently available techniques, little need exists for retrograde pyelography, because of the increased risk of urinary tract infections in patients with autosomal dominant polycystic kidney disease.

Special Concerns

• Early diagnosis of autosomal dominant polycystic kidney disease is desirable because it allows for genetic counseling, planning of optimal therapy, and screening of siblings.

Multimedia

Media file 1: 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.

Media file 2: 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.

Media file 3: Sonogram of the kidney in a patient with polycystic kidney disease shows numerous cysts of varying sizes.

Media file 4: Sonogram of the liver (same patient as in Image above) shows multiple cysts. Approximately 29-73% of patients with adult-type polycystic disease have cysts in the liver.

Media file 5: Excretory 5-minute urographic image in a young male patient with bilateral polycystic disease. The calyces are elongated and splayed because of the cysts, seen best on the right. Note the large size of both kidneys.

Media file 6: Aortogram (same patient as in Image above) demonstrates stretching of the intrarenal arterial branches, seen best in the upper pole of the right kidney.

Media file 7: Sonogram of the right kidney in a patient with adult-type polycystic kidney disease. The scan shows numerous cysts of varying sizes, with a large cyst in the upper pole.

Media file 8: Selective renal arteriogram (same patient as in Image above). A large filling defect is demonstrated in the upper pole of the right kidney, forming an acute angle with the normal renal cortex that results in a characteristic beak appearance.

Media file 9: Sonogram of the liver in a newborn with polycystic kidney disease shows numerous tiny cysts affecting both lobes of the liver.

Media file 10: Sonogram of the kidney in a newborn (same patient as in Image above) shows numerous cysts of varying sizes predominantly situated in the periphery.

Media file 11: 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.

Media file 12: 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.

Media file 13: Sonogram of the left kidney in a 45-year-old woman with bilateral polycystic kidney disease who presented with acute onset of left loin pain. The scan shows fluid around the left kidney and in the left pleural space, consistent with a ruptured renal cyst.

Media file 14: A 42-year-old man known to have autosomal dominant polycystic kidney disease presented with sudden left-upper-quadrant pain and hypotension. Sonography performed in the emergency department showed echogenic fluid in the left upper quadrant. The spleen was not identified. Some free peritoneal fluid also was seen (sonogram not shown). Contrast-enhanced computed tomography scan of the upper abdomen shows that the medial spleen (S) is associated with both intracapsular and extracapsular fluid. Note the cysts within the right kidney.

Media file 15: Contrast-enhanced computed tomography scan of the upper abdomen in the same patient as in Image 14 shows cysts in both kidneys. Note the free peritoneal fluid around the tip of the liver.

Media file 16: Because the patient shown in Images 14-15 was hemodynamically unstable, a splenic angiogram was obtained, with a focus on embolizing the spleen. The angiogram shows a medially displaced spleen with separation or stretching of the splenic capsule. A slit is seen in the lower lateral border as a result of splenic rupture (arrow). The spleen was embolized successfully, and no surgical intervention was required. The patient had splenic cysts, as previously recorded elsewhere. The presumptive diagnosis was spontaneous rupture of a splenic cyst. The patient had no history of trauma.

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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

Contributor Information and Disclosures

Author

Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP, Chairman of Medical Imaging, Professor of Radiology, NGHA, King Fahad National Guard Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR, LRCP is a member of the following medical societies: American Institute of Ultrasound in Medicine, Radiological Society of North America, Royal College of Physicians, Royal College of Physicians and Surgeons of the United States, Royal College of Radiologists, and Royal College of Surgeons of England
Disclosure: Nothing to disclose.

Coauthor(s)

Muthusamy Chandramohan, MBBS, DMRD, FRCR, Consultant Radiologist, Bradford Teaching Hospitals, UK
Disclosure: Nothing to disclose.

Sumaira MacDonald, MBChB, PhD, MRCP, FRCR, Lecturer, Sheffield University Medical School; Endovascular Fellow, Sheffield Vascular Institute
Sumaira MacDonald, MBChB, PhD, MRCP, FRCR is a member of the following medical societies: British Medical Association, Royal College of Physicians, and Royal College of Radiologists
Disclosure: Nothing to disclose.

Medical Editor

John L Haddad, MD, Clinical Associate Professor, Department of Radiology, Weill Medical College of Cornell University; Director of Body MRI, Department of Radiology, Methodist Hospital in Houston
John L Haddad, MD is a member of the following medical societies: American College of Radiology, American Medical Association, and Radiological Society of North America
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Arnold C Friedman, MD, FACR, Associate Chairman, Department of Radiology, University of Florida Health Science Center; Chief, Department of Radiology, Shands-Jacksonville Hospital
Arnold C Friedman, MD, FACR is a member of the following medical societies: American College of Radiology, American Institute of Ultrasound in Medicine, American Roentgen Ray Society, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Eugene C Lin, MD, Consulting Radiologist, Virginia Mason Medical Center; Clinical Assistant Professor of Radiology, University of Washington School of Medicine
Eugene C Lin, MD is a member of the following medical societies: American College of Nuclear Medicine, American College of Radiology, Radiological Society of North America, and Society of Nuclear Medicine
Disclosure: Nothing to disclose.

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