CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT

Dr. Arsalan Saeed

Resident Paediatrics medicine
LNH, Karachi
INTRODUCTION
• Congenital anomalies of kidney and urinary tract are extremely
common.
• About 20-30% of all congenital anomalies are related to the kidney
and urinary tract.
• Identified in the prenatal period by screening Ultrasonography.
• Contribute 30-50% of all pediatric end stage renal disease.
• Incidence 0.3 to 1.6 in 1000 births.
• Wide range of presentation from mild UPJ obstruction to bilateral
renal agenesis.
CLASSIFICATION
• Congenital anomalies of the kidney and urinary tract can be classified
as follows:

a) Malformation of the renal parenchyma

 Renal agenesis
 Renal Dysgenesis
 Supernumerary kidney
b) Abnormalities of embryonic migration of the kidneys
 Renal ectopy (pelvis kidney, cross-fused ectopic kidney, or cross-fused renal ectopia)
 Fusion anomalies (horseshoe kidney)
C) Abnormalities of the developing urinary collecting system

 Duplicated collecting systems (partial or complete)

 Anomalies of the renal pelvis (UPJ obstruction)
 Anomalies of ureter (megaureter, ectopic ureter, VUR)
 Anomalies of bladder (bladder exstrophy, prune belly syndrome)
 Anomalies of urethera (PUV), uretheral atresia
 Cloacal anomalies with complex pelvic anatomy
MALFORMATION OF THE RENAL PARENCHYMA
Renal Agenesis
• It is a medical condition in which one (unilateral) or both (bilateral)
fetal kidneys fail to develop.
• In unilateral renal agenesis, the mesonephric duct fails to develop on
one side.
• On malformed side, there will be absent kidney, ureter, trigone & vas
deferens (in males).
• The incidence of unilateral renal agenesis is 0.05%
• Associated findings include VACTERL syndrome, single umbilical artery
or contralateral VUR in 15% cases.
• Mayer- Rokitansky-Kuster-Hauser syndrome – unilateral renal
agenesis , ipsilateral mullerian defects, and vaginal agenesis.
• In bilateral renal agenesis, the mesonephric duct fails to develop on
both sides.
• It is almost always incompatible with life.
• Voiding cystourethrogram (VCUG) is recommended at the time of
diagnosis to rule out VUR.
• Incidence of VUR in renal agenesis is higher.
• Management of unilateral renal agenesis include follow up renal U/S
every 1 to 2 years.
• Blood pressure and kidney function should be monitored annually.
• Girls with unilateral renal agenesis – pelvic u/s to look for mullerian
structure abnormalities.
RENAL DYSGENESIS
• It is a broad term which include any form underdevelopment of the
kidneys.

• 3 principle types include

 Dysplasia
 Hypoplasia
 Cystic anomalies
A. Dysplasia
• Histologic diagnosis
• Kidney made up of undifferentiated tissue.
• There is loss of renal corticomedullary differentiation on
ultrasonography
• If cyst present with dysplasia – cystic dysplasia
• If entire kidney is dysplastic with cysts – multicystic dysplastic kidney
(MCDK).
• In MCDK – dysplastic kidney, tissue replaced by noncommunicating
cysts with no function
• Results from ureteral atresia.
• Incidence 1 in 2000 births.
• Most common cause of abdominal mass in newborns.
• Mostly unilateral.
• Bilateral MCDKs incompatible with life.
• Management includes follow up with serial renal ultrasounds.
• Voiding cystouretherogram (VCUG) – to rule out VUR in contralateral
kidney.
• MAG scan for differential renal function if surgery indicated.
• If unilateral, cystic kidney usually involutes over time (50% disappear
by age5)
• If cysts not regressing by age 7 years or patient develop HTN, consider
nephrectomy.
b. Hypoplasia
• Small nondysplastic kidney having fewer than normal number of
calyces & nephrons.
• Bilateral renal hypoplasia – End stage renal disease during 1st decade
of life.
• Simple hypoplasia – small kidneys, normal architecture and density of
nephrons.
• Segmental renal hypoplasia – Severe Hypertension and VUR.
• Renal hypoplasia may be isolated or part of a syndrome.
• Management is supportive
• Follow up by nephrologist for chronic kidney disease management.
• ACE inhibitors can slow disease progression.
Abnormalities of Embryonic Migration of The Kidneys
Renal Ectopy
• It is a developmental renal anomaly characterized by abnormal
anatomic location of one or of both the kidneys.
• Incidence 1 in 1000 autopsies.
• Usually has reduced function.
• Forms:

• Simple renal ectopy

• Crossed renal ectopy
• Crossed fused renal ectopy
• Management of renal ectopy

• VCUG to rule out VUR in case of hydronephrosis

• If U/S inconclusive, than CT or MRI for better visualization of pelvic kidneys.
• Girls with pelvic kidney – potential for renal compression when they become
pregnant.
LEFT ECTOPIC KIDNEY WITH AXIAL ROTATION
Horse Shoe Kidney
• Lower poles of both kidneys are fused together.
• Both kidneys rotated anteriorly.
• Incidence 0.4-0.6 in 10,000 live births.
• As fetus grows, joined kidneys help up by the Superior or inferior
mesenteric artery at L3 region.
• Associated with Turner syndrome.
• May have VUR and urinary obstruction leading to hydronephrosis.
• Management:
• VCUG to rule out VUR
• Prophylactic antibiotics if VUR present
Abnormalities of the Developing Urinary
Collecting System
UPJ Obstruction
• Ureteropelvic junction (UPJ) obstruction is an obstruction of the flow
of urine from the renal pelvis to the proximal ureter.
• Most common type of congenital obstruction
• Incidence – 1 in 500 to 1500 births. Bilateral in 10-40% cases
• Male to female ratio 2:1 , left to right ratio 2:1
• Caused by aperistaltic segment of ureter.
• The condition may present at any time in life.
• Diagnosis:
a) Supported by presence of HDN with negative VCUG.
b) Confirmed by diuretic renography (technetium Tc 99m or MAG3
scan)

• Delayed washout of radiotracer from kidney with obstruction is not

absolute surgical indication.
• Observation with serial U/S is appropriate.
• Indication for surgery: <40% differential function of affected kidney,
frequent UTIs, nephrolithiasis formation & flank pain.
• Pyeloplasty is the surgical intervention for UPJ.
VESICOURETERAL REFLUX
• VUR is defined as the retrograde flow of urine from the bladder into
the upper urinary tract.
• The incidence of VUR is the same in both sexes (1 in 100 newborns).
• In newborns with hydronephrosis, the prevalence is approximately
15%.
• VUR is usually classified as grade I through V, with grade I being the
least severe and grade V being the most severe.
Grading
• VUR grading divides VUR according to height of reflux up the ureters
and degree of dilatation of the ureters:
o Grade I: Reflux into nondilated ureter
o Grade II: Reflux into the renal pelvis and calyces without dilatation
o Grade III: Mild to moderate dilatation of the ureter, renal pelvis, and calyces
with minimal blunting of the fornices
o Grade IV: Dilation of the renal pelvis and calyces with moderate ureteral
tortuosity
o Grade V: Gross dilatation of the ureter, pelvis, and calyces; ureteral tortuosity;
loss of papillary impressions
• Each side may have a different grade of reflux.
• Most (>75%) grade I and II cases of VUR will resolve spontaneously.
• Approximately 50% of grade III cases and a lower percentage of
higher grades will also resolve spontaneously.
Types of VUR

• The 2 types of VUR are primary and secondary.

• The primary VUR is most often due to short intravesical length of the
ureter.
• The valve formed by the ureter pressing against the bladder wall does
not close properly, resulting in VUR.
• Primary VUR improves as a child grows, the ureter gets longer and the
grade of VUR reduces.
• Secondary VUR occurs due to bladder outlet obstruction.
• Children with secondary VUR often have bilateral reflux.
• The most common cause of secondary VUR in boys is PUVs.
• VCUG is the gold standard for diagnosis and evaluation of VUR grade,
especially in the neonatal age.
• Nuclear cystography may fail to detect high-pressure VUR in the
voiding phase, especially in untrained hands
Duplication of Collecting System
• It is a congenital condition in which the ureteric bud, the
embryological origin of the ureter, splits (or arise twice), resulting in
two ureters draining a single kidney.
• It is a common anomaly of the urinary tract.
• It is more common in females than males by 2:1.
• There is often incomplete duplication of the collecting system.
• In bifid pelvis, 2 pyelocalyceal systems are joined at the UPJ.
• There is a slightly increased risk of UTI in children with a bifid pelvis.
• Complete duplication - 2 separate ureters that enter the bladder
separately on a given side.
• Duplication is usually confirmed by intravenous urography.
• Management of duplication of the collecting system is according to
the segment affected and its function.
Ectopic Ureter
• An ectopic ureter is one that opens in some location other than the
bladder.
• 80% of cases are associated with a duplicated collecting system, and
20% with a single collecting system.
• Common sites where ureter opens in a female - urethra, vestibule,
and vagina.
• In the male, the ureter opens commonly into the posterior urethra
and seminal vesicles.
• Ratio of abnormality greater in females than males (6:1).
• In affected females, incontinence is generally very common;
• In affected females, incontinence is generally very common;
• Diagnosis is made by ultrasonography.
• When ultrasonography results normal with a high suspicion- CT or
MRI with contrast.
• Management is according to segment affected and its function.
• VCUG is also recommended to evaluate for VUR.
URETEROCELE
• A ureterocele is a congenital abnormality found in the ureter. In this
condition called ureteroceles, the distal ureters balloons at its opening
into the bladder, forming a sac like pouch.
• It is classified as simple or ectopic.
• Simple ureterocele - at the trigone of the urinary bladder.
• Ectopic ureterocele prolapses through the urethra.
• 80% of ureteroceles - the upper pole of a duplex collecting system
• Renal and bladder ultrasonography, VCUG, and nuclear renal scan are
recommended.
• Ureterocele may obstruct the urinary flow and cause the dilatation of
the upper urinary tract.
• Surgical deroofing of the cystic structure to open the urinary flow
from the upper urinary tract into the urinary bladder recommended.
Posterior Uretheral Valve
• It is an obstructive developmental anomaly in the urethra &
genitourinary system of male newborns.
• Most common type of lower urinary tract obstruction (LUTO)
• Seen in 1 in 5,000 to 8,000 male births.
• Among the most common causes of CKD in boys in the neonatal
period.
• PUVs are thin, membranous folds or flaps of tissue in the posterior
urethra.
• PUV lead to severe bilateral HDN, a dilated bladder, and a dilated posterior
urethra.
• In utero oligohydramnios with resultant pulmonary hypoplasia.
• Even after endoscopic resection of the valves, PUVs are a common cause of
end-stage renal disease and bladder dysfunction in children.
• Management includes
• postnatal kidney ultrasonography and VCUG
• Catheterization of the bladder
• stabilization of electrolytes and fluid status
• Ablation of PUV.
Some neonates may need vesicostomy if immediate and complete
fulguration of PUV is not feasible.
Bladder Exstrophy
• It is a congenital anomaly that exists along the spectrum of the
exstrophy-epispadias complex and most notably involves protrusion of
the urinary bladder through a defect in the abdominal wall.
• The anomalies include a defect in the anterior abdominal wall, a
defect in the anterior bladder wall, and epispadias.
• Incidence ranges from 3.3 to 5 per 100,000 live births.
• It occurs 1.5 to 2.5 times more often in males than females.
• More frequent in firstborn children, white compared with nonwhite
infants.
• Investigation include
o abdominal & renal ultrasonography
o VCUG
o MAG-3
o diethylene triamine penta-acetic acid
• Management includes urinary antibiotic prophylaxis and treatment of
any renal failure.
• Multistage surgery is required to correct the various defects.
PRUNE BELLY SYNDROME (EAGLE-BARRETT
SYNDROME
• Present clinically with a myriad of renal, ureteral, and urethral
abnormalities.
• Poor development of the abdominal muscles, causing the skin of the
belly area to wrinkle like a prune.
• Occurs in 3.8 cases per 100,000 live births.
• Urinary tract abnormalities include
 unusually large ureters
 a distended bladder
 Accumulation & backflow of urine from the bladder to the ureters and the kidneys (VUR)
• Testing involves
• abdominal and renal ultrasonography
• VCUG
• MAG-3 or diethylene triamine pentaacetic acid scan

• Management includes urinary antibiotic prophylaxis.

• Multistage surgery is required to correct the various defects.
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