The Egyptian Journal of Radiology and Nuclear Medicine (2014) 45, 12551264

Egyptian Society of Radiology and Nuclear Medicine

The Egyptian Journal of Radiology and Nuclear Medicine

www.elsevier.com/locate/ejrnm
www.sciencedirect.com

REVIEW

Ultrasound appearance of congenital renal disease:

Pictorial review
Narrotam A. Patel, Pokhraj P. Suthar

Department of Radiology, S.S.G. Hospital, Medical College, Vadodara, India

Received 12 April 2014; accepted 27 June 2014
Available online 5 August 2014

KEYWORDS
GUT;
Renal disease;
Congenital;
Ultrasonography

Abstract Congenital renal diseases consist of a variety of entities. The age of presentation and
clinical examination narrow down the differential diagnosis; however, imaging is essential for accurate diagnosis and pretreatment planning. Ultrasound is often used for initial evaluation. Computed
tomography (CT) and MRI provide additional information. Ultrasonography continues to occupy
a central role in the evaluation and detection of congenital renal diseases due to its advantage of
rapid scanning time, lack of radiation exposure, cost effective and easy feasibility.
 2014 The Egyptian Society of Radiology and Nuclear Medicine. Production and hosting by Elsevier
B.V. All rights reserved.

Contents
1.

Technique. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.1. Anomalies related to ascent of kidney. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.1.1. Ectopia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.1.2. Crossed renal ectopia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.1.3. Horseshoe kidney . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2. Anomalies related to the ureteric bud . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.1. Renal agenesis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.2. Supernumerary kidney . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.3. Duplex collecting system and ureterocele . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.4. Uretero-pelvic junction obstruction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.5. Congenital megacalyces . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.2.6. Congenital megaureter . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.3. Anomalies related to the renal growth . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.3.1. Renal hypoplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.4. Congenital cystic renal disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

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* Corresponding author. Address: 5-Durga Nagar Society, Karodiya, Baroda, Gujarat, India. Tel.: +91 9662500537, +91 9825543039.
E-mail addresses: drnapatel59@gmail.com (N.A. Patel), pokhraj_suthar@yahoo.co.in (P.P. Suthar).
Peer review under responsibility of Egyptian Society of Radiology and Nuclear Medicine.
http://dx.doi.org/10.1016/j.ejrnm.2014.06.014
0378-603X  2014 The Egyptian Society of Radiology and Nuclear Medicine. Production and hosting by Elsevier B.V. All rights reserved.

1256
2.
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N.A. Patel, P.P. Suthar

Infantile polycystic renal disease autosomal recessive polycystic kidney disease (ARPKD) Potter type I.
Multicystic dysplastic kidneys Potter type II . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
Early onset autosomal dominant polycystic kidney disease (ADPKD) Potter type III . . . . . . . . . . . . . . .
Obstructive cystic renal dysplasia Potter type IV . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
Conict of interest . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

1. Technique
A 35 MHz sector or linear transducer is used to scan the urinary tract. Although no specic preparation is required for
scanning the kidneys, fasting optimizes the visualization.
Evaluation of the renal vessels is augmented by adequate patient
hydration. Harmonic imaging is often useful for difcult-toscan patients (e.g., obese patient); additional recent software
advances, including compound imaging and speckle reduction,
may increase lesion conspicuity and decrease artifacts.
The kidneys are scanned in the transverse and coronal
plane. Optimal patient positioning varies; supine and lateral
decubitus positions often sufce, although oblique and occasionally prone positioning may be necessary. Usually, a combination of sub costal and intercostal approaches is required to
evaluate the kidneys fully; the upper pole of the left kidney
may be particularly difcult to image without a combination
of approaches. Varying the degree of respiration can help in
complete evaluation of kidneys.
1.1. Anomalies related to ascent of kidney
Kidneys develop in human embryos in three sets: those are
pronephrones, mesonephrones and metanephrones. Pronephrones appears early in the fourth embryological week and rudimentary and nonfunctioning [1]. The mesonephrones form late
in the fourth week and function as interim kidneys until the
developing metanephrone begins to function in the ninth week.
The metanephrone also known as permanent kidney develops
from two sources: those are the ureteric bud and metanephrogenic blastema. The ureteric bud forms the ureter, renal pelvis,
calices and collecting ducts, interacting with and penetrating
the metanephrogenic blastema. This interaction is necessary
to initiate ureteric bud branching and differentiation of nephrone within the blastema. Initially, foetal kidneys are found in
the pelvis. With foetal growth, the kidney comes to lie in the
upper retroperitoneum in the ninth gestational week. With
ascent, the kidneys rotate medially 90 so that the renal pelvis
is directed anteromedially. With the kidneys ascended, they
derive their blood supply from nearby vessels; adult blood
supply is from the abdominal aorta.

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kidney should immediately be performed if the kidney is not

identied within renal fossa (Figs. 1 and 2). If the kidney
ascends too high, it may pass through the foramen of Bochdalek and become a true thoracic kidney, ultrasound is helpful
to determine if the diaphragm is intact or not.
1.1.2. Crossed renal ectopia
Crossed fused ectopia of the kidney is a rare malformation
occurring in 0.050.1% of the population [3]. There is a recognized male predilection with a 2:1 male to female ratio. More
than 90% of crossed renal ectopia results in fusion. Leftto-right ectopia is thought to be three times more common.
In crossed renal ectopia, both kidneys are found on the same
side. In 8590% of cases, the ectopic kidney will be fused to
the other kidney. The upper pole of the ectopic kidney is
usually fused with the lower pole of the other kidney. Fusion
of metanephrogenic blastema does not allow proper rotation
or ascent; thus both kidneys are more caudally located,
although the uretero-vesical junctions are located normally.
On ultrasound, both kidneys are on the same side and are
typically fused with a characteristic anterior or posterior
notch between the two fused kidneys (Fig. 3) with a
difference in orientation of the 2 collecting systems in the fused
kidneys [4,5]. In addition, ultrasonography can give vital information on the arterial supply and venous drainage, which can
be grossly abnormal. Calyceal dilatation and distortion,
hydronephrosis and urolithiasis can also be diagnosed with
ultrasonography [6,7]. In patient with renal colic, knowing that
the uretero-vesical junctions are in the normal position is
particularly important.

1.1.1. Ectopia
Failure of kidney to ascend during embryologic development
results in a pelvic kidney. Prevalence rate is 1 in 724 paediatric
autopsies [2]. These kidneys are often small and abnormally
rotated. The ureters are often short; poor drainage and collecting system dilatation predispose to secondary infection and
stone formation. The blood supply is often complex; multiple
arteries may be derived from regional arteries like the internal
iliac artery or the common iliac artery. A search for a pelvic

Fig. 1 Ectopia: Transverse sonogram of a new born baby shows

the absent right kidney in right renal fossa between the liver and
right psoas muscle.

Ultrasound appearance of congenital renal disease: Pictorial review

Fig. 2 Ectopia: Transverse sonogram of same patient in right

iliac fossa (RIF) demonstrates 31 18 mm sized reniform structure with cortico-medullary differentiation indicating the ectopic
right kidney in RIF.

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Fig. 3 Crossed renal ectopia: Sagittal sonogram of 10 day old

neonate in the left lumbar region demonstrates the lower pole of
the left kidney is fused with the upper pole of the right kidney in
left renal fossa with notch in anterior aspect.

Mc Donald and McClellan (1957) classied crossed ectopic

kidney into 4 types
1.
2.
3.
4.

Crossed renal ectopia with fusion 90%.

Crossed renal ectopia without fusion uncommon.
Solitary Crossed renal ectopia very rare.
Bilateral Crossed renal ectopia extremely rare.
Sub types of Crossed renal ectopia [8] (Fig. 4).

(A)
(B)
(C)
(D)
(E)
(F)

Type
Type
Type
Type
Type
Type

1
2
3
4
5
6

inferior crossed fused ectopia,

sigmoid or S-shaped kidney,
unilateral lump kidney,
unilateral disc kidney,
L-shaped kidney and
superior crossed fused ectopia.

1.1.3. Horseshoe kidney

Horseshoe kidneys are the most common type of renal fusion
anomaly. Horseshoe kidneys are found in approximately 1 in
400500 adults and are more frequently encountered in males
(M:F 2:1) [911]. Horseshoe kidneys occur when metanephrogenic blastema fuses prior to ascent; fusion is usually at the
lower pole (95%). The normal ascent of the kidneys is
impaired by the inferior mesenteric artery (IMA) which hooks
over the isthmus. Typically, the isthmus is composed of functioning renal tissue, although rarely it is made up of brous tissue. The horse shoe kidney sits anterior to the abdominal great
vessels and derives its blood supply from the aorta or other
regional vessels like inferior mesenteric, common iliac, internal
iliac or external iliac arteries. Abnormal rotation of the renal
pelvis often results in ureteropelvic junction obstruction; the
horseshoe kidney is thus predisposed to the infection and stone
formation. Additional associated anomalies include vesicoureteric reux, collecting system duplication, renal dysplasia, anorectal malformation, rectovaginal stula, omphalocele, skeletal
abnormality, cardiac abnormality and retrocaval ureter.
On ultrasound, horseshoe kidneys are usually lower than
the normal position, and the lower pole projects medially.
Transverse imaging of the retroperitoneum will demonstrate

Fig. 4 Sub types of crossed renal ectopia: (A) Type 1 inferior

crossed fused ectopia, (B) type 2 sigmoid or S-shaped kidney, (C)
type 3 unilateral lump kidney, (D) type 4 unilateral disc kidney,
(E) type 5 L shaped kidney and (F) type 6 superior crossed
fused ectopia.

the renal isthmus crossing the midline anterior to abdominal

great vessels (Fig. 5). Hydronephrosis and collecting system
calculi may occur. Unless aware of the typical appearances
of a horseshoe kidney, the abnormally rotated and inferiorly
located kidney results in poor visualization of the inferior pole
and underestimation of the length. This is especially the case if
the patient is scanned prone, and is an additional argument for
scanning patients supine with left and right decubitus positions

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N.A. Patel, P.P. Suthar

[10]. Alternatively the renal tissue located anterior to the aorta

may be mistaken for retroperitoneal tissue, such as may be
seen in lymphoma or metastatic nodal enlargement [10].
1.2. Anomalies related to the ureteric bud
1.2.1. Renal agenesis
Renal agenesis may be unilateral or bilateral. Bilateral renal
agenesis is a rare anomaly that is incompatible with life. It is
traditionally known as the classic Potter syndrome. Renal
agenesis and dysgenesis (malformation of the kidney) occur
in around one in 1500 births [12].
Unilateral renal agenesis is usually an incidental nding; the
contra lateral kidney of this patient may be quite large secondary to compensatory hypertrophy. Renal agenesis occurs when
there is absence of the metanephrogenic blastema, absence of
ureteral bud development, or absence of interaction and penetration of the ureteric bud with the metanephrogenic blastema.
Renal agenesis is associated with genital tract anomalies,
which are often cystic pelvic mass in both men and women.
Other associated anomalies include skeletal abnormalities,
anorectal malformation, and cryptorchidism.
On ultrasonography, the kidney is absent (Fig. 6) with
absent ipsilateral renal artery, a normal adrenal gland is usually
found. The term lying down adrenal sign (Fig. 7) has been
ascribed to the elongated appearance of the adrenal not normally moulded by the adjacent kidney [13]. The adrenal gland
will be absent in 817% of the patients with renal agenesis
[1]. It may be difcult to differentiate between renal agenesis
and a small, hypoplastic or dysplastic kidney. With all these
conditions the contra lateral kidney is enlarged due to compensatory hypertrophy. Usually, the colon falls into the empty
renal bed. Care should be taken not to confuse a loop of gut
with a normal kidney. Renal vessels are absent on same side
(Figs. 1214).

Fig. 6 Renal agenesis: Sagittal sonogram of 11 year old female

shows the absent right kidney in right renal fossa between the liver
and right psoas muscle with adrenal gland resting over right psoas
muscle Lying down Adrenal Sign.

1.2.2. Supernumerary kidney

It is a rare anomaly. It is usually small in size than the normal
one and found above, below, in front of or behind the normal

Fig. 7 Renal agenesis: Sagittal sonogram of same patient shows

normal left kidney.

kidney. The supernumerary kidney often has only a few calices

and a single infundibulum. The formation of a supernumerary
kidney is likely caused by the same mechanism that gives rise
to a duplex collecting system. Two ureteric buds reach the metanephrogenic blastema, which then divides, or alternatively,
there are initially two blastema [14]. On ultrasonography an
extra kidney will be found.
1.2.3. Duplex collecting system and ureterocele

Fig. 5 Horseshoe kidney: Transverse sonogram shows the

connecting isthmus crossing anterior to the retroperitoneal
(Aorta) great vessels, with the renal parenchyma of each limb of
the horse shoe draping over the spine.

Duplex collecting system is the most common congenital

anomaly of the urinary tract, with a reported incidence of
0.510% of all live births [12]. Duplication is complete when
there are two separate collecting systems and two separate ureters, each with their own ureteric orice. Duplication is incomplete when the ureters join and enter the bladder through a
single ureteral orice. With complete duplication, the ureters
from the lower pole of the kidney migrate to assume the
normal position, whereas ureter from the upper pole migrates

Ultrasound appearance of congenital renal disease: Pictorial review

abnormally to a more medial and inferior ureteral orice. In
complete duplication, the ureter draining the lower pole has
a more perpendicular course through the bladder wall making
it more prone to reux. The ectopic ureter from the upper pole
is prone to obstruction, giving rise to an ureterocele.
On ultrasonography, a duplex collecting system is seen as
two central echogenic renal sinuses with intervening, bridging
renal parenchyma. Unfortunately, this sign is insensitive and
is seen only in 17% of duplex kidneys [15]. Hydronephrosis
of the upper pole moiety and visualization of two distinct collecting systems and ureters are diagnostic (Fig. 8). The bladder
should be evaluated for ureterocele. An ureterocele will appear
as a round, cyst like structure within the bladder. Sometimes it
may be large enough to occupy the bladder (Fig. 9). In female
patients TVS can detect even small ureterocele [16]. Colour
Doppler and spectral analysis can provide additional information about ow dynamics due to transient change in size [17]
(Fig. 10]. The ultrasonographic appearance of a duplex kidney
is specic but not sensitive. Ultrasonographic ndings provide
excellent anatomic information but do not necessarily differentiate a bid renal pelvis from a bid ureter or from 2 complete
ureters [18].

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Fig. 9 Ureterocele: Transverse sonogram of same patient shows

dilatation of the ureter from the upper ureter from upper pole
moiety and a large anechoic cystic structure at left VUJ
representing as ureterocele.

1.2.4. Uretero-pelvic junction obstruction

Incidence in paediatric population is at 1 per 10002000 newborns [19]. It is a common anomaly with a 2:1 male predominance. The left kidney is affected twice as frequently as the
right kidney. It is bilateral in 1030% of cases [20]. Patients
present with chronic, dull aching back or loin pain. Symptomatic patients and those with complications like stone, infection
or impaired renal function should be treated. There is
increased incidence of contra lateral renal agenesis or multicystic dysplastic kidneys (Fig. 11). Most of idiopathic UPJ
obstruction is thought to be functional rather than anatomical.
On microscopic examination, excessive collagen between muscle bundle, decient/absent muscle, and excessive longitudinal
muscle was found [20]. Sometimes aberrant artery, intrinsic
valve or luminal stenosis lead to obstruction.
On ultrasonography, hydronephrosis is present to the level
of UPJ with marked ballooning of the renal pelvis. A chronic
case shows renal parenchymal atrophy (Figs. 1214). Ureter is
normal. Look at contra lateral kidney for renal agenesis or
multicystic dysplastic kidneys using Doppler sonography, the

Fig. 8 Ureterocele: Sagittal sonogram of 12 year old female

patient shows central parenchymal separating the upper pole and
lower pole moieties. There is mild dilatation of both moieties.

Fig. 10 Ureterocele: Transverse sonogram of same patient on

application colour Doppler shows ureteric jet.

Fig. 11 Right renal agenesis with left sided PUJ obstruction:

Sagittal sonogram of 5 year old female patient shows the absent
right kidney in right renal fossa between the liver and right psoas
muscle.

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N.A. Patel, P.P. Suthar

obstructed kidneys can show higher RIs (resistive indices)

(Fig. 15) [21].
1.2.5. Congenital megacalyces
Non obstructive enlargement of the calices and being typically
unilateral increase the chances of secondary infection and
stone formation. It is associated with primary megaureter
[22]. On ultrasonography, numerous enlarged clubbed shaped
calices are seen. Papillary impression is absent and cortical
thickness is maintained.
1.2.6. Congenital megaureter
Congenital megaureter also known as megaloureter results in
functional ureteric obstruction. Men are affected more often,
and the left ureter is typically involved [20]. But bilateral
involvement is seen in 850% of patients. In megaloureter distal segment of the ureter is aperistaltic which leads to insignificant distal ureterectasis to progressive hydronephrosis or
hydroureter. On ultrasonography, classical nding is fusiform
dilatation of distal third of ureter (>7 mm) sometimes

Fig. 12 Right renal agenesis with left sided PUJ obstruction:

Sagittal sonogram of 5 year old female patient shows marked
ballooning of the left renal pelvis with abrupt cut off at PUJ.

Fig. 14 Right renal agenesis with left sided PUJ obstruction:

Transverse sonogram of same patient demonstrates absent right
renal vein.

Fig. 15 Right renal agenesis with left sided PUJ obstruction:

Transverse sonogram of the left kidney in ureteropelvic junction
on application of colour Doppler demonstrates raised RI value.

markedly [23]. Sometimes pyelectasis may be present in long

standing cases. Calculi were also noted proximal to adynamic
segment.
1.3. Anomalies related to the renal growth
1.3.1. Renal hypoplasia

Fig. 13 Right renal agenesis with left sided PUJ obstruction:

Transverse sonogram of 5 year old female patient demonstrates
the absent right renal artery.

Renal hypoplasia refers to a congenitally small kidney where

there is essentially normal residual parenchyma but smaller
calyces, lobules and papillae. This is in contrast to renal atrophy where renal development which was initially normal has
become smaller as secondary sequel from various other pathologies. In an adult patient the distinction from the latter however can be difcult. Renal hypoplasia can be divided into
two broad groups: complete (global) renal hypoplasia and
segmental renal hypoplasia (Ask Upmark kidney) [13]. If
unilateral renal hypoplasia is usually asymptomatic bilateral
renal hypoplasia is present with renal insufciency. On
ultrasonography, the kidney appears small in size but
otherwise normal [13].

Ultrasound appearance of congenital renal disease: Pictorial review

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1.4. Congenital cystic renal disease

(1) Infantile polycystic renal disease Autosomal recessive
polycystic kidney disease (ARPKD) Potter type I.
(2) Multi cystic dysplastic kidneys Potter type II.
(3) Early onset Autosomal dominant polycystic kidney
disease (ADPKD) Potter type III.
(4) Obstructive cystic renal dysplasia Potter type IV.

2. Infantile polycystic renal disease autosomal recessive

polycystic kidney disease (ARPKD) Potter type I
Autosomal recessive polycystic kidney disease is one of the
commonest inheritable infantile cystic renal diseases, but is
far less common than autosomal dominant polycystic disease
(ADPKD) which affects adults. The incidence is estimated at
1:20,00050,000 [24]. There is no recognized gender or racial
predilection. Results from a mutation in the PKHD1 gene
(polycystic kidney and hepatic disease) location on chromosome 6p. This results in bilateral symmetric microcystic disease
occurring in the distal convoluted tubules and collecting ducts.
It may be associated with Caroli disease [25] or congenital
hepatic brosis [26,27].
On ultrasonography, antenatal ultrasound associated oligohydramnios may be identied. Cysts are initially too small to
resolve but with time may become discernible. Unlike ADPKD
the cysts rarely exceed 12 cm in diameter (Figs. 16 and 17).
The kidneys appear enlarged and echogenic but usually retain
a reniform shape. Medullary pyramids initially may appear
hypoechoic compared to cortex, which can give a peripheral
halo during this stage. They eventually become increasingly
hyperechoic and corticomedullary differentiation is eventually
lost. High-resolution ultrasound (linear-array transducer,
7.5 MHz or greater) allows visualization of numerous cylindrical cysts in the medulla and cortex, which represent ectatic
collecting ducts [28]. Ultrasound is also useful in assessing
the liver for congenital hepatic brosis and may demonstrate
normal or coarsened echotexture, biliary tract cystic change
(Caroli disease) and portal hypertension.

Fig. 17 ARPKD: Sagittal sonogram shows multiple micro cysts

in the left kidney which are not communicating with each other.

3. Multicystic dysplastic kidneys Potter type II

MCDK develops in utero and the diagnosis is often made
either in antenatal or in the early neonatal period, if an ultrasound is performed. It may otherwise go unrecognized and
may be a common cause of renal agenesis, following complete
involution during childhood. The unilateral incidence is estimated at 1:25004000. There may be a predisposition for the
left kidney, a slightly higher incidence in males for unilateral
MDCK and a higher incidence in females for bilateral MCDK.
The affected kidney (or renal segment) has no functioning
renal tissue and is replaced by multiple cysts. Two main types:
pelvi-infundibular and hydronephrotic-obstructive [29]. Pelviinfundibular type is most common and multiple small noncommunicating renal cysts representing the dilated calyces
and it may sometimes regress spontaneously. In hydronephrotic-obstructive type a dominant cyst is present in the renal
pelvis. Associated contralateral renal tract abnormalities are
common and include vesicoureteric reux (VUR) most common and seen in up to 20% [30], pelviureteric junction (PUJ)
obstruction, ureteral ectopia, vesicoureteric junction (VUJ)
obstruction, and ureterocele. Syndromic associations include
MeckelGruber syndrome and Zellweger syndrome. A normal
life expectancy can be expected as long as the contralateral kidney is normal. Complete spontaneous involution is said to
occur in up to 60% of cases, but may take up to 10 years to
occur [30].
On ultrasonography, lobulated renal contour with multiple
internal cysts of varying sizes and shapes is visible (Fig. 18).
The renal parenchyma is usually brous and echogenic with
absent or small hilar vessels. Real time imaging is extremely
useful to exclude any communication with the ureter and
between each other.
4. Early onset autosomal dominant polycystic kidney disease
(ADPKD) Potter type III

Fig. 16 ARPKD: Sagittal sonogram shows multiple micro cysts

in the right kidney which are not communicating with each other.

Autosomal dominant polycystic kidney disease is one of the

most common serious hereditary diseases, found in 1:500 to
1:1000 individuals, and by far the most common hereditary
cause of end stage renal failure (ESRF) and accounts for
1015% of all cases of ESRF [13]. The kidneys are normal

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Fig. 18 Multi cystic dysplastic kidney: Sagittal sonogram in

neonate shows multiple anechoic cysts of variable size in the right
kidney which are not communicating with each other.

at birth, and with time develop multiple cysts. At the age of

30 years, approximately 68% of patients will have visible cysts
by ultrasound. That gure increases over time, such that essentially all patients eventually demonstrate cystic change. By the
age of 60 years approx. 50% of patients have end stage renal
failure (ESRF). The risk of renal cancer is not increased.
Clinical presentation is variable and includes dull ank pain
of variable severity and time course, abdominal/ank masses,
haematuria, hypertension, and renal functional impairment
to renal failure. The majority of cases are inherited in an autosomal dominant fashion. In a minority of cases, no family
history is present, and the disease is due to a spontaneous
mutation. Two genes have been identied, with slightly different phenotypes PKD1 and PKD2 [31]. PKD1 is located on
chromosome 16p and seen in 85% of cases and presentation
is earlier and more likely to progress to end stage renal failure
(ESRF). PKD2 is located on chromosome 4q, 15% of cases
and is less severe. Associated with cerebral berry aneurysms
found in 6% of patients with ADPKD without a family history
of aneurysms and in up to 16% of patients with ADPKD with
a family history [32], intracranial dolichoectasia in 23%,
colonic diverticulosis, small bowel diverticula, bicuspid aortic
valve, mitral valve prolapse in up to 25%, aortic dissection,
cysts in other organs like liver: common (Fig. 19), 75% by
age 60 years. The defect results in cystic dilatation of the renal
tubules (of all parts of the nephron) in a minority of nephrons.
The cysts are variable in size and result in compression of the
remainder of the kidney (Figs. 20 and 21), resulting in
increased renin and erythropoietin secretion, and gradual renal
dysfunction.
On ultrasonography, simple renal cysts will appear anechoic with well dened imperceptible walls, posterior acoustic
enhancement (amplication) and lateral shadowing (extinction) [31]. Cysts with haemorrhage or infection will demonstrate echogenic material within the cyst, without internal
blood ow. Calcication may develop. Renal cell carcinomas
in contrast, although usually cystic in the setting of ADPKD,
will have solid components of thick septae with blood ow.
Perinephric haematomas may be visible and collections of variable echogenicity surrounding the kidney. It should be differentiated with primary renal disease related cysts, autosomal
recessive polycystic kidney disease (ARPKD) and medullary

N.A. Patel, P.P. Suthar

Fig. 19 ADPKD: Few well dened anechoic cystic lesions noted

in the liver in ADPKD patient.

Fig. 20 ADPKD: Sagittal sonogram in same patient shows

multiple well dened anechoic cysts in the right kidney which are
not communicating with each other with enlarged right kidney.

Fig. 21 ADPKD: Sagittal sonogram in same patient shows

multiple well dened anechoic cysts in the left kidney which are
not communicating with each other with enlarged left kidney.

Ultrasound appearance of congenital renal disease: Pictorial review

cystic disease. In primary renal disease related cysts the renal
parenchyma appears abnormal, reduced in volume with
increased echogenicity on ultrasound. In Autosomal recessive
polycystic kidney disease (ARPKD) enlarged kidney, cysts
are very numerous and small, changes are present in childhood
and corticomedullary differentiation is lost. In medullary
cystic disease cysts are smaller and located in the medulla.
5. Obstructive cystic renal dysplasia Potter type IV
It is a potential complication that can occur from prolonged
obstruction of the bladder outlet or urethra during gestation.
Ureteric obstruction during active nephrogenesis results in cystic renal dysplasia; the earlier and longer the obstruction the
more severe the histopathological changes of dysplasia [33].
Any obstructive renal tract pathology distally involving the
renal tract can be a potential cause which includes posterior
urethral valves, urethral agenesis, Duplex collecting system
with obstructing ureterocele and congenital vesicoureteric
junction obstruction. Associated anomalies may be present in
up to 50% of cases that can include VACTERL association,
congenital heart disease, CNS abnormalities, and congenital
gastrointestinal malformations [34].
On ultrasonography, the kidneys are usually normal to
small in size [28,35] with highly echogenic cortices, loss of cortico-medullary differentiation, and scattered cysts (usually
smaller than those seen with multicystic dysplastic kidneys).
The reniform shape is often preserved until late in disease.
General differential considerations include multicystic dysplastic kidneys in which no distal obstruction and Meckel Gruber
syndrome which has occipital encephalocoele and polydactyly.
6. Summary
Congenital renal diseases are commonly encountered on
ultrasound imaging studies. Clinical presentation along with
ultrasound imaging features and vascularity as assessed by
Doppler US help in accurate diagnosis. Despite dramatic
improvements in MRI, CT and nuclear study, sonography
continues to occupy a central role in the evaluation and detection of congenital renal diseases due to its advantage of rapid
scanning time, lack of radiation exposure, cost effective and
easy feasibility.
Conict of interest
None declared.
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