Congenital Anomalies Of

Kidney And Urinary Tract

Dr Santosh Subedi
Resident, DM Nephrology 2020
CAKUT
• Congenital Anomaly Of Kidney And Urinary Tract
Spectrum of malformations ranging from the complete absence of renal tissue to
minor structural alterations

• Incidence in fetal ultrasound

0.3 to 1.6 per 1000 pregnancies

• Account for 30 -50% of all cases of ESKD in children

• In adults, 2 -3% of ESKD

• Boys are 1.3 -1.9 times more likely to be affected than girls

• 30 % CAKUT are associated with other malformation syndromes

• More than 200 syndromes have been described with CAKUT.

Classification :
A. MALFORMATION OF THE RENAL PARENCHYMA

• Normal renal development is dependent upon the reciprocal

interaction between the ureteric bud and metanephric mesenchyme

• Renal parenchymal malformations involve genetic as well as

environmental factors
RENAL HYPOPLASIA
• Renal length below two standard deviation the mean for age with
reduction in number of nephrons but a normal renal architecture.

Nephrons : 20 – 25 % of normal

Hypertrophic glomerulus and tubules

Thickening of Bowman’s capsule

Abnormalities of GBM (Fusion of foot processes)

Low nephron
number

Glomerular Hyperfiltration

Hypertension

Proteinuria

Renal Damage
• ESKD at mean age of 10 yrs

• CONGENITAL OLIGOMEGANEPHRONIA : severe form

• Treatment : ACEI (Ramipril)

Renal Dysplasia

• Renal dysplasia refers to abnormal and incomplete development of the kidney

• Nephrons are normal, but ducts are incompletely branched and surrounded by
undifferentiated and metaplastic stroma

• Dysplasia may be segmental or entire kidney, cystic or without.

• Cystic dysplasia is often associated with antenatal obstruction of the urinary tract

• They may also be associated with posterior urethral valves (PUV) or ureteropelvic junction
obstruction (UPJO) or vesicoureteral reflux (VUR)
• Multicystic dysplastic kidney (MCDK) is a severe form of renal
dysplasia in which very large cysts (noncommunicating) dominate
kidney structure and normal renal tissue cannot be identified

• MCDK is usually unilateral but bilateral disease may occur.

• If contralateral kidney is normal, it undergoes compensatory

hypertrophy and results in a kidney size that is greater than two
standard deviations beyond the mean length.
• Dysplasia, by definition a histological diagnosis

• But in most patients diagnosis is made on the basis of evaluation with

ultrasound and renography.

• This typically shows cysts and/or a small kidney with decreased

corticomedullary differentiation and a reduced split renal function
• The clinical consequences of renal dysplasia depend upon the residual
renal function and may range from hypertension to CKD

• Bilateral MCKD: Incompatible, unilateral may be asymptomatic

• Until recently nephrectomy was performed routinely, whereas

nowadays most are left in situ and followed with serial ultrasound
• The term hypodysplasia is utilized in cases of congenitally small
kidney (reduced number of nephrons) with dysplastic features

• Renal hypoplasia is more commonly associated with dysplasia than

without.
Renal Tubular Dysgenesis
• Renal tubular dysgenesis involves the absence or incomplete differentiation of proximal
tubular nephron segments

• Due to the lack of a patent nephron, it is characterized by

Fetal Anuria
 Oligo hydramnios
 Pulmonary Hypoplasia
Premature Birth
 Severe Refractory Arterial Hypotension
 Fetal Or Neonatal Death
• Autosomal recessive inheritence

• Mutation in genes of RAS system : Angiotensinogen/Renin/ACE/Angiotensin II

Receptor Type 1

• USG
Normal kidney size
Normal CMD

• Histopathology
Normal Glomeruli
Incomplete tubular development
• Most patients with renal tubular dysgenesis do not survive
beyond the neonatal period.

• It is also associated with skull ossification defects (Potter syndrome)

Nephronophthisis (NPHP) : nephron
wasting

• Most frequent genetic cause of ESKD in children

• Autosomal Recessive

• Mutation in gene coding for NEPHROCYSTINS (NPHP), which is

necessary for ciliary function.
Pathology

• Impaired urine concentrating ability

polyuria,
polydipsia and
sodium retention

• Chronic Tubulointerstitial Nephritis

• ESKD by 2nd decade.

• Variants

• 20 % multi systemic manifestations due to ciliary dysfunction and

Skeletal Scoliosis, Polydactyly, Short Limbs/ Ribs

Eye Retinitis Pigmentosa
Neurologic Ataxia, Hypotonia, Developmental Delay
Liver Hepatosplenomegaly Portal Fibrosis
Cardiac Situs Inversus/ Valve Abnormalities
• Treatment
Supportive

• Renal transplantation is the preferred replacement therapy as

outcome is excellent, and the disease does not recur in the
transplanted kidney
ABNORMALITIES OF EMBRYONIC MIGRATION OF
THE KIDNEYS
• Ectopic kidney encompasses abnormalities in migration where the
kidney is not located in the renal fossa

• Simple renal ectopia implies the kidney lies ipsilateral in the pelvis

• In crossed renal ectopia, the kidney is located contralateral to the

side where the ureter enters the bladder, usually below the orthotopic
organ
• Children are generally asymptomatic, and the diagnosis is often
made coincidentally during routine antenatal or postnatal
ultrasonography

• In 20 percent of simple and in 30 percent of crossed ectopic kidneys

children have complications, such as infection, renal calculi, and
urinary obstruction.
Fusion Anomalies
• Renal fusion anomalies arise between weeks 4 and 9 weeks of gestation, before
the kidneys ascend from the pelvis to the dorsolumbar space.

• Usually the orthotopic and the ectopic kidneys are fused (crossed fused ectopia)

• Horseshoe kidney is the most common fusion where lower poles of each
kidneys are fused with incidence of 1/400 to 1/800.

• The majority of patients with horseshoe kidneys are asymptomatic.

CROSSED FUSED ECTOPIA

HORSE SHOE KIDNEYS

• Approximately 80% of children with horseshoe kidneys have
hydronephrosis

• Causes of hydronephrosis include

VUR
Obstruction of ureteropelvic junction obstruction (UPJO)
Renal calculi
DUPLEX SYSTEM
• A duplex system forms when two separate ureteric buds arise from the wolffian duct
one side or a single bud bifurcates and reaches the metanephric mesenchyme

• The majority of duplex systems are incomplete indicating that the ipsilateral ureters
fuse before entering the bladder

• Complete duplex system enter in to bladder separately

• Complete may be categorized as

Anomaly of the upper moiety, with ureterocele or ectopic ureter
Anomaly of the lower moiety, associated with VUR
INCOMPLETE DUPLEX

COMPLETE DUPLEX WITH URETEROCELE

COMPLETE DUPLEX WITH VUR

ANOMALIES OF DEVELOPING URINARY
COLLECTING SYSTEM
FETAL HYDRONEPHROSIS

• It is the most common anomaly detected on antenatal USG

• It affects 1% to 5% of pregnancies
• UPJO is believed to account for 35% to 50% of these uropathies
• UPJO can be
INTRINSIC
EXTRINSIC
• Fibrosis
• Smooth Muscle Hypertrophy • Aberrant Crossing Of Renal Pole Vessels
• Abnormal Innervation • Fibrosis Of Adjacent Tissue
• Consequently, obstruction of flow leads to dilation of the renal pelvis

• The spectrum ranges from slight pelvic dilation with normal urine flow to
an almost complete obstruction with renal parenchymal damage

• However most congenital obstruction resolves spontaneously

• A mild pelvic dilation on (<15 mm), more than 40% function and, more
than 50% nuclide drainage on diuresis renography are considered
indicators of a low risk of renal damage
• Most children are monitored using ultrasonography

• Nuclide scans in case of ultrasonographic deterioration

• When needed, laparoscopic pyeloplasty is preferred because it is

minimally invasive, safe, and effective
MEGAURETER
• In children, ureter >7/8 mm in diameter is considered a megaureter.

• May be : Primary/Secondary

PRIMARY
Increased levels of collagen type I have been found
in the distal ureter, leading to a functional obstruction in UVJ

SECONDARY

• Abnormalities of bladder or urethra ( myelomeningocele/neurogenic bladder)

• Posterior urethral valves

• Primary megaureter is second common cause of hydronephrosis in newborns

• The diagnosis of primary megaureter is made by prenatal or neonatal

ultrasonography

• Postnatal presentation can occur at any age, with symptoms of UTI,

hematuria and abdominal pain

• The prognosis of primary megaureter is generally good with most cases

resolving spontaneously within the first 3 years of life.
Posterior urethral valve

• Posterior urethral valves are membranous folds that fan out distally from prostatic urethra to external
urinary sphicture.

• PUV: most common congenital cause of lower urinary tract obstruction in male

• Incidence : 1/5,000 to 1/8,000

• ESRD in childhood : 15–17% attributed to PUV.

• Acting as rigid bands or membranes it causes obstruction and proximal dilation of the bladder

• Prenatal ultrasonography is diagnostic

Renal and urologic manifestations

CKD
VUR and
Bladder dysfunction : Detrusor Hypertrophy & Pseudodiverticula

Management :
Vesico-amniotic shunting
(the PLUTO trial)
 Vesico ureteral reflux
• VUR is the retrograde passage of urine from the bladder into the
upper urinary tract

VUR

SECONDARY

High voiding pressure in the bladder resulting in

PRIMARY failure of UVJ during contraction of bladder
Incompetence of the UVJ Often associated with
More Common • Anatomic (posterior urethral valves) or
• Functional (neurogenic bladder)
• Ultrasonography : Initial work up
Kidney Size,
 Hydroureteronephrosis
 Bladder Wall Thickness
Extent Of Bladder Emptying

• The voiding cystourethrogram (VCUG) is the test of choice to establish

the presence and degree of VUR.
• Spontaneous resolution - Majority

• Medical : Prophylactic Antibiotics

• Surgical : Endoscopic VUR correction

CONGENITAL FUNCTIONAL
SOLITARY KIDNEY

• Congenital solitary functioning kidney (cSFK)

Unilateral Renal Agenesis/Aplasia
Multicystic Dysplastic Kidney

• Previously considered benign, recent evidences deny

• Follow-up data on patients with cSFK have

RENAL INJURY : Hypertension/Proteinuria, in 32% children

FUNCTION DETERIORATION during adolescence
 RENAL SURVIVAL : 60–80% at the age of 30 years
60% renal agenesis/aplasia
80% MCDK
Thank you