eMedicine Specialties > Radiology > Genitourinary
Autosomal Recessive Polycystic Kidney Disease: Imaging
Updated: Apr 24, 2008
Radiography
Findings
Plain radiography
In the neonate, plain abdominal radiographs may demonstrate bilateral flank masses due to nephromegaly; these masses may cause the bowel to become displaced centrally (see Image below and Image 1 in Multimedia). In severe cases, perinatal chest radiographs show Potter syndrome with hypoplastic thoraces and an elevated diaphragm. Occasionally, pneumothoraces or pneumomediastinum is observed. In the older child, hepatomegaly, splenomegaly, and nephromegaly are seen on plain abdominal radiographs.
Autosomal recessive polycystic kidney disease (ARPKD). Abdominal radiograph demonstrates bilateral flank masses in a 3-day-old boy with ARPKD.
Intravenous urography
In the neonate, intravenous urograms reveal decreased excretion of contrast material, nephromegaly, and characteristic striated nephrograms due to dilated collecting tubules (see Image below and Image 2 in Multimedia). Contrast material may remain in the dilated tubules for days without visible excretion into the renal calyces. In more severe cases, renal excretion may be absent. Intravenous urography is rarely used in the very young infant.
Autosomal recessive polycystic kidney disease (ARPKD). Excretory urogram of the same patient as in Image 1 demonstrates excretion into the bilaterally massively enlarged kidneys (arrows), with distorted pelvocalyceal systems and the vague suggestion of striated nephrograms.
In the older child, intravenous urography demonstrates more rapid excretion and a striated nephrogram. On follow-up excretory urograms, kidneys that were initially enlarged are seen to be smaller or even of normal size. One should remember that intravenous contrast material is nephrotoxic in patients with renal failure.
Esophagraphy
Esophagraphic results can confirm the presence of varices in patients with portal hypertension.
Degree of Confidence
The demonstration of organomegaly on plain images is a nonspecific finding. Plain radiographs are also insensitive for the detection of renal calcification in patients with ARPKD.
False Positives/Negatives
In one study of patients with ARPKD, plain radiographs demonstrated only one seventh of the renal calcifications that were demonstrated on CT scans. Occasionally, renal function in neonates is so poor that their kidneys cannot be visualized with intravenous urography.
Computed Tomography
Findings
Autosomal recessive polycystic kidney disease (ARPKD). Axial nonenhanced CT scan of a 1-day-old boy with ARPKD shows massively enlarged, hypoattenuating kidneys (K) that occupy most of the abdominal area.
In the perinatal period, nonenhanced CT scans demonstrate nephromegaly with renal attenuation values approximating that of water. This feature is secondary to the water-containing, dilated, collecting tubules (see Image above and Image 3 in Multimedia). After the administration of contrast material, striated nephrograms are observed; these are due to the stasis of contrast medium in dilated tubules with diminished excretion.
In one study, 7 of 9 children aged 9-15 years had had CT scans that demonstrated renal calcifications. These calcifications were always bilateral and diffuse but tended to be more significant in ARPKD patients with moderate to severe renal failure.
CT examination may also demonstrate hepatic duct ectasia, varices, and splenomegaly.
One should remember that intravenous contrast material is nephrotoxic in patients with renal failure.
Degree of Confidence
CT is generally not required in the very young infant.
False Positives/Negatives
Intrahepatic bile ducts may appear either dilated or normal on CT examinations of patients with ARPKD.
Magnetic Resonance Imaging
Findings
MRI may be used to characterize the findings of autosomal recessive polycystic kidney disease (ARPKD) in utero, possibly with better detail than sonography. Fetal MRI demonstrates nephromegaly with low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. This finding is attributed to the fluid-filled, ectatic collecting ducts.
Renal MRIs of children with ARPKD may demonstrate nephromegaly with reniform-shaped kidneys and a homogeneous parenchymal signal pattern without pyelocaliectasis. The renal parenchyma has high signal intensity with T2-weighted sequences and usually has low signal intensity with T1-weighted sequences. In rapid acquisition with relaxation enhancement (RARE) magnetic resonance urography, hyperintense linear structures are seen radiating in the cortex and medulla. They represent dilated collecting ducts. Small subcapsular renal cysts may be seen. In a series of 8 children with ARPKD, MRIs failed to demonstrate hepatic fibrosis or bile duct dilatation.11,12,13,14,15,16
Degree of Confidence
An unfavorable fetal position, a large maternal size, and oligohydramnios are some of the factors that can limit obstetric MRI.
False Positives/Negatives
Magnetic resonance cholangiography is more sensitive than sonography in the detection of biliary dilatation in children with ARPKD
Ultrasonography
Findings
Ultrasonography is often the first imaging modality used to diagnose cases of autosomal recessive polycystic kidney disease (ARPKD). The diagnosis may be suspected because of enlarged, echogenic kidneys on an obstetric sonogram, on a newborn's sonogram obtained to evaluate abdominal masses or renal insufficiency, or on an older child's sonogram obtained to evaluate portal hypertension.
The small size of a newborn or child facilitates the use of high-frequency ultrasound transducers that have outstanding resolution. The ability to perform imaging studies without the risk of sedation, intravenous contrast material, or ionizing radiation is an advantage of sonography. Images can be obtained in a number of planes to facilitate interpretation. In some circumstances, Doppler ultrasonography is used to evaluate blood flow.
Prenatal sonography may demonstrate echogenic, enlarged kidneys, oligohydramnios, or an empty urinary bladder in severe cases of ARPKD; however, these findings are not demonstrable in all cases (see Images below and Images 4-5 in Multimedia). Severely affected fetuses with oligohydramnios often have pulmonary hypoplasia, abnormal facies, and high mortality due to pulmonary insufficiency (Potter syndrome).
Autosomal recessive polycystic kidney disease (ARPKD). Obstetric sonogram demonstrates massively enlarged kidneys (arrows) in this fetus with ARPKD. The kidneys occupy most of the abdomen. A segment of the fetal spine (S) is seen dorsally. On this sonogram, there is no evidence of oligohydramnios.
Autosomal recessive polycystic kidney disease (ARPKD). Coronal image of the kidneys from the same study as in Image 4. The poles of the enlarged kidney are marked by the cursors of the electronic calipers used to measure the length of the kidneys.
In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses (see Images Images 6-13). There may be fetal lobation, which is a normal finding. The kidneys are often diffusely echogenic. This has been attributed to reflection of the ultrasound waves from the many acoustic interfaces of dilated medullary collecting ducts, or perhaps to increased acoustic interfaces from interstitial edema. Frequently, there is loss of the differences in echogenicity that distinguishes the renal cortex from the renal medulla (see Images 6-10 and 13). In less severe cases, a sonolucent rim of cortical tissue may be present (see Image 11). This rim has variously been attributed to compressed cortical tissue without duct ectasia, to perirenal fluid, and to elongated thin wall cysts in the peripheral cortex.
Discrete, small sonolucent cysts and, less frequently, larger cysts may occasionally be seen on sonograms of patients with ARPKD (see Image below and Image 8 in Multimedia).
Autosomal recessive polycystic kidney disease (ARPKD). Sonogram through the long axis of the left kidney. Arrowheads and electronic calipers mark the contour of the kidney. This image is of the same patient seen in Images 6-7. It demonstrates an enlarged echogenic kidney with a discrete hypoechoic cyst (arrow).
These cysts are more likely to be demonstrated with modern high-resolution equipment (see Image below and Image 13 in Multimedia). A rare but interesting case was reported in which the sonogram demonstrated focal sonolucent macrocysts that contained radiating septations. These corresponded pathologically to radially oriented, dilated collecting tubules.
Autosomal recessive polycystic kidney disease (ARPKD). Sagittal sonogram of the 10.6-cm, elongated left kidney of the newborn girl shown in Images 9-10 demonstrates an echogenic kidney with a discrete hypoechoic cyst (arrow).
In premature infants with severe ARPKD, the increased echogenicity may be localized to the pyramids, mimicking medullary nephrocalcinosis (see Image below and Image 12 in Multimedia). Because liver involvement tends to be less severe in newborns, the livers of newborns with ARPKD usually appear normal on ultrasonography; however, increased hepatic echogenicity or early bile duct ectasia on sonography has been reported. Long-term imaging demonstrates the emergence of hepatic fibrosis and portal hypertension and has been reported to show the development of splenomegaly, often with varices.
Autosomal recessive polycystic kidney disease (ARPKD). Sagittal sonogram through the other kidney of the newborn shown in Image 11 reveals echogenic pyramids (arrows) that mimic medullary nephrocalcinosis.
In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids, loss of corticomedullary junction differentiation, mild to moderate nephromegaly, and (occasionally) dilated cystic-appearing collecting ducts. There are some published data regarding the patterns of serial renal growth and the changing patterns of renal echogenicity in children with ARPKD. One study of long-term survivors reported that renal size tends to peak at 1-2 years of age and then decreases until age 4-5 years, with the echogenicity returning to normal. Another group found little change in the nephromegaly over time and that diffuse hyperechoic foci correlated with the onset of renal failure. Renal calculi may be seen with sonography. Microcalcification in ARPKD is caused by the precipitation of calcium within dilated collecting ducts. This is attributed to decreased urinary citrate excretion and abnormally alkaline urine.
Patients presenting in childhood often have portal hypertension. Long-term survivors with ARPKD develop portal hypertension secondary to hepatic fibrosis. The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen (see Images below and Images 14-15 in Multimedia). Increased through-transmission of the ultrasound beam is seen beyond the dilated bile-filled ducts. Choledocholithiasis and complicating cholangitis may develop.
Autosomal recessive polycystic kidney disease (ARPKD). Hepatic sonogram of a child with ARPKD demonstrates both tubular and round dilated hepatic ducts (arrows).
Autosomal recessive polycystic kidney disease (ARPKD). Image of the same patient seen in Image 14 demonstrates a nodular protrusion of tissue into a dilated hepatic duct (arrow).
Sonography of patients with portal hypertension may reveal collateral veins, and Doppler sonography demonstrates the velocity and direction of blood flow within the portal vein. Color-flow Doppler provides qualitative information, and duplex Doppler provides quantitative information about portal venous flow. Rarely, areas of intrahepatic duct ectasia with a central echogenic do may be seen in tpatients with ARPKD; such findings are characteristic of Caroli disease. Caroli disease has been associated with ARPKD.14,17,18,19,20,21,22,23,24,25
Degree of Confidence
Ultrasonography is highly operator dependent, and its utility often depends on the skill of the person performing the study and not just the individual interpreting the final images.
On renal sonography, small foci of intense echogenicity, with or without acoustic shadowing, have been attributed to either microcalcifications or reflections from the walls of multiple tiny cysts (see Image below and Image 10 in Multimedia). Renal calcifications occur in ARPKD but are more frequently seen with CT than sonography.
Autosomal recessive polycystic kidney disease (ARPKD). Transaxial section through the same kidney (arrowheads) as in Image 9 demonstrates a very echogenic kidney with loss of the corticomedullary junction. Foci of intense echogenicity (arrows) may be due to the acoustic interfaces at the walls of tiny cysts or to focal renal calcification.
False Positives/Negatives
In utero, autosomal recessive polycystic kidney disease (ARPKD) is usually not diagnosed with obstetric sonography before the second half of pregnancy; however, ARPKD is uncommonly suspected on the basis of sonographic results during the early second trimester.
Autosomal dominant polycystic kidney disease (ADPKD) and glomerulocystic kidney disease can present in newborns with bilaterally enlarged echogenic kidneys that are indistinguishable from ARPKD. In these cases, the family history may suggest ARPKD. In approximately 10% of ADPKD cases, there is asymmetric renal involvement; is is very uncommon in ARPKD. Other conditions that have echogenic nephromegaly include bilateral renal vein thrombosis, congenital nephrotic syndrome, and diffuse cystic renal dysplasia that are seen in syndromes such as Meckel syndrome, Goldston syndrome, Zellweger syndrome, and Jeune syndrome.
Nuclear Imaging
Findings
In the newborn with severe autosomal recessive polycystic kidney disease (ARPKD) involvement, renal scintigraphy shows enlarged reniform kidneys with poor function. In older children, hepatobiliary scintigraphy can demonstrate cholestasis and intrahepatic duct dilatation. Technetium-99m iminodiacetic acid (HIDA) hepatobiliary scintigraphy may demonstrate enlargement of the left lobe of the liver; delay in maximal hepatocyte uptake; delayed excretion of radionuclide into the biliary tree, which is often dilated; and delayed excretion into the bowel.24,26,27
Degree of Confidence
99m Tc DMSA renal scintigraphic findings are not specific and are variable. Reported patterns include both nonspecific discordant focal defects throughout the kidneys, particularly at the poles, and homogeneous renal uptake. In very young infants renal99m Tc mercaptoacetyltriglycine (MAG3) may show enlarged poorly functioning kidneys, even when the kidneys cannot be demonstrated by excretory urography.
False Positives/Negatives
In a small minority of patients with ARPKD, results of renal or hepatobiliary nuclear medicine imaging studies are normal.
Angiography
Findings
Angiography is not usually required for patients with autosomal recessive polycystic kidney disease .
More on Autosomal Recessive Polycystic Kidney Disease |
| Overview: Autosomal Recessive Polycystic Kidney Disease |
 Imaging: Autosomal Recessive Polycystic Kidney Disease |
| Follow-up: Autosomal Recessive Polycystic Kidney Disease |
| Multimedia: Autosomal Recessive Polycystic Kidney Disease |
| References |
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References
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Further Reading
Keywords
autosomal recessive polycystic kidney disease, ARPKD, PDK, infantile polycystic kidney disease, polycystic disease of the newborn, hamartomatous form of polycystic kidney disease, polycystic kidney disease, Potter type I, chromosome 6, PKHD1, perinatal ARPKD, neonatal ARPKD, infantile ARPKD, juvenile ARPKD
