congenital anomalies of kidney, power point presentation.

1. Congenital Anomalies of Kidney
Dr. Shahariar
Hossain
DMRD Student-
2023
Comilla Medical
College

2.  Congenital anomalies :
 Anomalies of number
 Anomalies of ascent
 Anomalies of from and fusion
 Anomalies of rotation
 Anomalies of the collecting system
 Anomalies of vasculature

3. Anomalies of number.
 1)Bilateral Renal Agenesis (BRA)
 Quite rare.(1/3000 live birth)
 40% infants with BRA are stillborn.
 Male > Female
 Besides the absence of functioning kidney , each ureter may be either wholly
or partially absent.
 Cause: Failure of the ureteric bud to reach the metanephros.
 Oligohydramions develops as a result of the utero failure of urine production.
Resulting in potters syndrome , which has characteristic faces and death from
pulmonary hypoplasia.

4. USG of Fetus at 20 weeks gestation with bilateral renal agenesis.
A) USG showing anhydramions with not exhibiting of renal images(arrow).
B)Coronal view with power Doppler not identifying the renal
arteries(arrow).

5. T2 weighted MRI images confirm anhydramnios and absence
of the bladder and kidneys (arrow).

6. Potter Syndrome
 Potter syndrome is a fetal congenital
disorder characterized by the
changes in physical appearances of
neonate due to oligohydramnios
caused by renal agenesis and
impairment.
 4 subtypes
 Subtype 1 – associated with
autosomal recessive polycystic
kidney.
 Subtype 2 – associated with renal
dysplasia.
 Subtype 3 – due to autosomal
dominant polycystic kidney.
 Subtype 4 – is related with
obstruction of ureter or pelvis.

7. 2)Unilateral renal agenesis.
 This is not uncommon ( Upto 0.1% of live birth).
 Male : Female = 3:1
 More frequently on left side.
 Cause: Failure of ureteric bud to reach the metanephros. Predictably the
ipsilateral ureter and hemitrigone also fail to develop, although occasionally a
blind ending ureteric stamp is present.
 Associated ipsilateral urogenital abnormalities are common and include
absence of the vas-deferens ,unicomuate uterus, and absence or cyst of
seminal vesicle.
 Radiographic feature:
 Antenatal Ultrasound : with widespread use of, antenatal USG, renal agenesis
can be identified in utero. Absent ipsilateral kidney on USG and renal artery
on doppler USG.
 Post natal imaging: All image modalities will demonstrate the absent of
kidney,with associated hypertrophy of single kidney.

8. Antenatal USG shows left renal agenesis.

9. Axial and coronal cut of CT shows
unilateral renal agenesis.

10. Supernumerary Kidney
 They are extremely rare.
 Usually left sided, hypoplastic and caudally positioned.
 Formation of two ureteral buds on one side.
 Ureter may be bifid or separate.
 All image modalities will demonstrate it like, USG, IVU,
CT, MRI.

11. On Coronal non contrast view, noted there are two well
formed kidneys on left side and fused in the lower pole and
not crossing the midline.

12. Anomalies of ascent.
Renal Ectopia:
 Failure of complete ascent of kidney to the level of the
second lumber vertebra is relatively common , the
kidney coming to lie anywhere from the pelvis
upwards. Overascent is rare.
 Ectopic kidneys are found in – pelvis , iliac region ,
abdomen , crossed kidney ,even thorax.
 Left sided ectopic anomalies are common.
 There is usually an anomalous blood supply with
multiple renal arteries from the aorta or iliac vessels at
the level of kidney.

13.  A pelvic kidney is encountered in 1/1000 live births,
with a male predominance.
 The kidney is often small and the pelvic position is
associated with an increased risk of
trauma,vesicoureteric reflex and calculus formation
(due to urinary stasis).
 There is also an increase rate of contralateral renal
anomalies, including agenesis and ectopia.
 When both kidneys remain in pelvis they may fuse,
producing the small pancake kidney.

14. Locations of ectopia:
 The pelvic kidney remains in opposite the sacrum and
below the aortic bifurcation.
 The lumber kidney remains near the sacral promontory in
the iliac fossa and anterior to iliac vessel.
 The abdominal kidney ,when it remains above the iliac
crest and adjacent the 2nd lumber vertebra.
 Thoracic kidney – partial or complete protrusion of the
kidney above the level of diaphragm into the posterior
mediastinum.

15. Ectopic kidney.

16. Ectopic kidney

17. Anomalies of form and fusion.
 Horseshoe kidney.
 Most common of all renal fusion anomalies.
 1/400 live birth.
 2:1 male predominant.
 This anomaly occurs between 4th and 6th week of gestration.
 The intermediate mesoderm that gives rise to the metanephric blastema fails to
separate.
 As the ureteric bud grows cranially they come into contact with the fused
nephrogenic cods and nephrogenesis proceeds.
 The metanephric tissue of the developing kidneys results in a midline connection
(isthmus) between the poles,the isthmus may be anything from a fibrous band to a
block of renal tissue.

18. Horseshoe kidney.
 Fusion usually occurs at the lower poles. Upper and mid pole fusion is
rare.
 There is generally associated malrotation and accessory renal arteries.
 The ascent of the combined kidneys is arrested in the low abdomen as the
isthmus impinges on the inferior mesenteric artery.
 It is(isthmus) often associated with pelviureteric junction obstruction.
 There is an increased incidence of renal calculi, assumed to be due to
relatively poor drainage of PC system with the ureters running anteriorly
over the isthmus.
 Its low position directly over the spine also increases the risk of injury.
 An increase risk of Wilm’s tumour , medullary sponge kidney ,turners
syndrome.
 Other associations include anomalies of the GIT and cardiovascular
system.

19. Radiographic feature:
-The characteristic
configuration is often visible on
plain x-ray but better on
nephrogram phase of IVU.
-Isthmus may poorly seen due
to its position over lying lower
lumber spine and it contain
little parenchyma.
-CT and MRI shows the
characteristic shape and
position.

20. Horseshoe kidney.

21. Crossed fused ectopia.
When a kidney is located on the side
opposite from which its ureter inserts
into the bladder the condition is known
as crossed ectopic and 90% of crossed
ectopic are fused.
Types:
1. Unilateral fused kidney(inferior
ectopia)
2. Sigmoid or S shaped kidney
3. Lump kidney
4. L shaped kidney
5. Disc kidney
6. Unilateral fused kidney(superior
ectopia)

24. Rotational abnormality:
 Failure of normal developmental
rotation leaves the pelviureteric
junction pointing anteriorly.
 This relatively common , harmless
anomaly produces characteristic
appearance on USG,IVU and CT.
 Rarely over rotation occurs, leaving
the pelviureteric junction pointing
posteriorly.
 Reversed rotation,where hilum faces
laterally but vessels located
anteriorly.
 Incomplete rotation, where hilum
faces anteriorly,ureters are located
laterally.

25. Anomalies of the collecting system:
 Megacalycosis
 Non obstructive
enlargement of calyces
resulting from malformation
of renal papilla or
underdevelopment of the
renal medullary pyramids.
 Here calyces are generally
dilated and malformed and
may be increased in
number.

27.  Extra renal calyces.
 Congenital anomaly in
which the major calyces as
well as the renal pelvis are
outside the parenchyma of
the kidney.
 Usually do not produce
symptoms. Failure of
normal drainage produce
stasis , infections , stone.

28. The plane image reveled no radio opaque shadow. The other film taken after 10
min of I/V contrast injection. In this we saw a dilated renal kink in the ureter at
the level of L3 vertebra. And pelvis on right side is extrarenal in nature.

29. Calyceal diverticulum
 This is a common variant , found in 1/250 IVUs and it is an intraparenchymal
cavity lined with transitional epithelium.
 The diverticulum is usually a few millimeters in diameter(occasionally much
longer) and communicate with a minor calyx, either centrally or at a fornix.
Occasionally they arise from the infundibulum to a major calyx, rarely
directly from the renal pelvis.
 They do not receive drainage from nephrons and therefore opacify during ivu
after the rest of the calyces.

30. Plain radiograph shows faint curvilinear opacity in the right
renal region. On 5 min film, shows stretching upper and
middle calyxes.

31. Delayed images shows well opacification
of a large calyceal diverticulum on right.

32. Trans abdominal USG shows large cystic structure in the
middle portion of right kidney with mobile, hyper-echoic
material in the dependent portion(milk of calcium).

33. Duplex collecting system:
 Duplication is complete when there
are two separate collecting
systems and two separate ureters,
each with their own ureteral
orifice.

34. Duplex collecting system:
 Duplication is incomplete when the
ureters join and enter the bladder
through a single ureteral orifice.

35. Abnormalities in structure
 Fetal lobulation:
 5% of adult population, lobulation
persist.
 Can be mistaken by other
parenchymal disorder.
 Differentiating features:
 Parenchymal thickness >14mm
 Indentation must be smooth and
regular
 Centering of calyces.

36. Renal pseudotumours.
 Prominent area of normal renal
tissue may develop and appear as
mass lesions.
 There is no clinical significance but
may be misdiagnosed as neoplastic
mass. A column of bertin is
commonly encountered.
 This variant is due to a prominent
column of normal renal
parenchyma , usually at the
junction of the upper and middle
thirds of the kidney.
 It is often bilateral

37. Longitudinal renal ultrasound scan showing a prominent
column of Bertin(Arrow).
Transverse section showing the same.

38. Congenital cystic disease.
 Multicystic disease:
 This is a relatively common condition , which is not detected antenatally. Usually
presents as a childhood abdominal mass. It is thought to be due to in utero, failure
of the ureteric bud to connect with the nephrons in the metanephric blastima. The
ureter in turn fails to develop and is atretic, while the kidney becomes non
functioning.
 On USG or CT the kidney is composed of non-communicating cysts of varying size.
 Multicystic kidney is associated with an increased risk of contralateral pelviureteric
junction obstruction.
 Multiple cysts are seen in numerous(rare) congenital syndrome like Noonans,
turners,etc.
 Most frequently encountered clinically important conditions in adults are,
polycystic disease of kidneys,tuberous sclerosis and von hippel-landau syndrome.

39. Polycystic kidney disease.
 There are two types of polycystic kidneys:
1.Autosomal recessive.
2.Autosomal dominant.

40.  Autosomal recessive:
 In Autosomal recessive polycystic disease of the kidneys (ARPCK),
the renal parenchyma is replaced by numerous tiny(1-8) cysts.
 It has been referred to as infantile PCK but there are four
subtypes( perinatal , neonatal , infantile and juvenile).
 Most present in the neonatal period with oligohydramnios and
Potters syndrome, with early death from respiratory failure.
 In the older subtype renal function is better preserved.

41.  There is an association with
periportal fibrosis and subsequent
liver failure.
 In patients who present early
(perinatal/neonatal), are renal
disease dominantes the clinical
picture, whereas in older
children(infantile/juvenile) liver
disease dominates.

42.  Antenatal USG of 13 weeks
showing enlarged fetal
abdomen almost completely
occupied by enlarged kidneys.
 Both kidneys are significantly
enlarged and show numerous
tiny cystic interfaces.

43.  Kidney showing increased
echogenicity (due to acoustic
enhancement of the tiny cyst) and
altered corticomedullary
differentiation.
 With high frequency linear probe,
numerous tiny cyst are visualized.
One measured 1.6 mm.

44.  Liver shows course
echogenic texture
with evidence of
cystic dilatation.

45. Enlarged kidney in addition to bilateral multiple small cystic
attenuation areas suggested ARPKD.
Multiple cystic hypodense area in right lobe of liver. And enlarged
spleen also noted on coronal , portal venous phase.

46.  Autosomal Dominant:
 In autosomal dominant polycystic disease of the of the kidneys
(ADPCK) numerous cysts of varying size , often becoming
extremely large, develop within the kidneys, gradually replacing
normal renal parenchyma and ultimately producing renal failure.
 The kidneys are normal at birth.
 It usually presents between 20 and 39 years of age , although
milder forms may not present until over 60 years and lack of renal
failure has been observed in some cases up to 80 years .

47.  Presentation is usually with HTN,renal insufficiency, complications of cyst (
haematuria , pain, infections).
 Sometimes with abdominal mass discovered on incidental clinical or imaging
examination.
 There may be associated cysts in liver (50%), pancreas , spleen and lung.
 15% have cerebral berry aneurysms. And there is an increased incidence of
coarctation and valvular heart disease.

48. Radiological features.
ADPCK
Multiple bilateral renal cysts of
varying size are seen. Initialy the cysts
are simple and separated by normal
parenchyma. Over time ,they increase
in number and size. And enlarged the
both kidneys also the parenchyma
became disappear.

49.  USG shows multiple
tiny,small to large
cystic hypoechoic
structure.

50. CT of abdomen on axial and coronal view demonstrates both kidneys
to be markedly enlarged by innumerable cysts ranging a few
millimeter to multiple centimeters. These cysts also vary in density,
somes are hypodense, some hyperdense, others are calcified. Cysts
are also noted on liver.

51. Medullary sponge kidney.
 This is a common condition due to
ectasia of the collecting ducts
within the renal pyramide.
 It is generally bilateral but may be
unilateral or segmental,affecting
as little as a single papilla.
 Benign, asymptomatic.
 Weak association with: wilm’s
disease,pheochromocytoma,horses
hoe kidney.

52. Non contrast CT demonstrating cluster of
calcification around the corticomedullary
junction of both kidneys.
Claster of calcific density are noted over
the renal shadows on both sides,
distributed on the anatomical distribution
of renal medulla.

53.  The delayed phase of image of
IVU,shows the contrast material
fills the masses of dilated IMCD and
cysts which make up the sponge.
 The masses of dilated filled with
contrast produce a characteristic
‘papillary blush’ which appears like
flames on the outer edges of the
papillae. When it particularly
large, it can mimic a bouquet of
flowers peripheral to the collecting
system.

55. Renal vascular abnormalities:
 As the kidneys ascend they sequentially acquire and then lose arteries along
the iliac arteries and then the aorta.
 Failure of involution of one or more of these is a common developmental
variant and is seen in up to 25% of live births, most commonly a small lower
pole artery.
 The presence of an accessory renal artery is of significant and should be
identified if certain surgical procedures are being considered.
 Common in horseshoe kidney, crossed fused kidney.
 Accessory renal veins occur in up to 1/8 live births and are often retroaortic
on the left.

56. Main stem renal artery supplying the upper two-thirds of the
kidney with an accessory lower pole artery demonstrated on
angiography.

57. Thank you all.