CONGENITAL

ANOMALIES

dr. Bungaran Sihombing

dr. Syah Mirsya Warli

I. UPPER URINARY TRACT

1. Abnormalities of the kidney position & number
1. Simple ectopia
2. Thoracic ectopia
3. Crossed ectopia & fusion (Bauer)
4. Horseshoe kidney
5. Bilateral renal agenesis
6. Unilateral renal agenesis
7. Supernumerary kidney

UPPER URINARY TRACT

2. Cystic abnormalities of the kidney (Glassberg)
1. Autosomal dominant polycystic kidney disease
2. Autosomal recessive polycystic kidney disease
3. Medullary sponge kidney (tubular ectasia)
4. Medullary cystic disease (juvenile
nephronophtisis)
5. Unilateral multicyctic dysplastic kidney

UPPER URINARY TRACT

3. Collecting system abnormalities (Bauer)
1. Calyceal diverticulum
2. Hydrocalycosis
3. Megacalycosis
4. Infundibulopelvic stenosis
5. Ureteropelvic junction obstruction (UPJO)

UPPER URINARY TRACT

4. Ureteral abnormalities
1. Duplication of ureter
2. Atresia
3. Mega-ureter
4. Vesicoureteral reflux
5. Ureteral ectopia
6. Ureterocele

II. LOWER URINARY TRACT

1.
2.
3.
4.
5.

Extrophy & epispadia

Urachus
Posterior Urethral Valves (Type I)
Megalourethra
Miscellaneous

III. EXTERNAL GENITAL

MALFORMATION
1.
2.
3.
4.

Hypospadia
Cryptorchidism
Hernia and communicating hydrocele
Appendages

IV. CLOACAL DYSGENESIS

1. Cloaca anomaly
2. Vaginal Atresia &
Mayer-Rokitansky-Kster-Hauser Syndrome

I. UPPER URINARY TRACT

1. Abnormalities of the kidney position & number

1. SIMPLE ECTOPIA

Incidens 1 : 900, left side favored

Associated findings :
- Small size
- Anomalous vasculature
- Contralateral agenesis
- VUR
- undescended testes, hypospadia
- urethral duplication (10-20% male)
- skeletal & cardiac anomalies (20%)

I.

UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

2. THORACIC ECTOPIA

< 5% of ectopic kidney

Origin is delayed closure of diaphragmatic
anlage vs overshoot of renal ascent
Adrenal may or may not be thoracic

I. UPPER URINARY TRACT

1. Abnormalities of the kidney position & number

3. CROSSED ECTOPIA & FUSION

1 : 1000 to 1 : 2000, 90% crossed with fusion

2 : 1 male, 3 : 1 left crossed
Origin abnormal migration of ureteral bud
or rotation of caudal end

I.

UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

4. HORSESHOE KIDNEY

1 : 400, 2:1 males

Origin fusion of lower poles before or during
rotation (4 - 6 wks of gestation)
Associated findings :
- anomalous vessels
- skeletal, CV, CNS anomalies
- hypospadias & cryptorchidism, UTI, stone.
Excluding other anomalies, survival isnt
affected

I. UPPER URINARY TRACT

1. Abnormalities of the kidney position & number

5. BILATERAL RENAL AGENESIS

1 : 4800 births
Origin ureteral bud failure or absence of the
nephrogenic ridge
Associated findings :
- absent renal arteries
- complete ureteral atresia (50%)
- bladder atresia (50%)
- low birth weight, oligohydramnion

I.

UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

6. UNILATERAL RENAL AGENESIS

1 : 1500, 2 : 1 male, left kidney more often

Origin ureteral bud failure; familial trend
Associated findings :
- absent ureter with hemitrigone (50%)
- adrenal agenesis (10%)
- genital anomalies
If single kidney N no special precaution and
survival is not affected

I.

UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

7. SUPERNUMERARY KIDNEY

Incidens : unknown
Origin combined defect of ureteral bud &
metanephros
Associated findings :
- hydronephrosis (50%)
- common ureter (40%)
- duplex ureter (40%)
- ectopic ureter (20%)

I. UPPER URINARY TRACT

2. Cystic abnormalities of the kidney

1. AUTOSOMAL DOMINANT POLYCYSTIC

KIDNEY DISEASE

Adult type is the most common cystic disease in

humans
1 : 1250, 10 % of all End Stage Renal Disease
Present at age 30 50 yrs, can occur in children
Pain, hematuria, progressive renal insuff
IVU irregular renal enlargement + calyceal
distortion
Assoc. findings : liver cysts, berry aneurism

I. UPPER URINARY TRACT

2. Cystic abnormalities of the kidney

2. AUTOSOMAL RECESSIVE POLYCYSTIC

KIDNEY DISEASE

Infantile type, rare (1 : 10.000)

IVU streaked appearance (sunburst
pattern)
Usually die within the first 2 mo of life

I. UPPER URINARY TRACT

2. Cystic abnormalities of the kidney

3. MEDULLARY SPONGE KIDNEY

(TUBULAR ECTASIA)

Adult disease
Enlarged tortuous collecting ducts
1 : 20.000
IVU bristles on a brush
Complication : infection, stones, distal renal
tubular acidosis, hematuria
1/3 pat with hypercalcemia

I.

UPPER URINARY TRACT

2. Cystic abnormalities of the kidney

4. MEDULLARY CYSTIC DISEASE

(JUVENILE NEPHRONOPHTHISIS)

Bilateral small kidney, amedullary cysts

Progress to ESRD by age 20
Juvenile type 20% of childhood renal failure
deaths
Polydipsia & polyuria in 80%
Retinitis pigmentosa in 16%

I.

UPPER URINARY TRACT

2. Cystic abnormalities of the kidney

5. UNILATERAL MULTICYCTIC
DYSPLASTIC KIDNEY

Most common cystic disease of the newborn

Second most common abdominal mass in
infant after hydronephrosis
Left kidney is more common, =

I.

UPPER URINARY TRACT

3. Collecting System Abnormalities (Bauer)

1. CALYCEAL DIVERTICULUM

4,5 : 1000
Origin failure of degeneration of 3rd & 4th
order branches of ureteral bud
In 1/3 patients stones will be form
Th/ : removal stones, drainage of pus,
marsupialization to the renal surface

I. UPPER URINARY TRACT

3. Collecting System Abnormalities (Bauer)

2. HYDROCALICOSIS

Rare
Involving vascular compression, cicatrization
or achalasia of the infundibulum
Rarely requires any intervention

I. UPPER URINARY TRACT

3. Collecting System Abnormalities (Bauer)

3. MEGACALYCOSIS

Rare, one or both kidney

Dilated unobstructed calyces, > 25 / kidney
(N : 8 10)
Faulty uretral bud division, hypoplasia of
juxtamedullary glomeruli & maldevelopment
of calyceal musculature
: = 6 : 1, only in Caucasian
X-linked recessice

I. UPPER URINARY TRACT

3. Collecting System Abnormalities (Bauer)

4. INFUNDIBULOPELVIC STENOSIS

May involve part or all of one or both kidney

Calyces quite large
No progressive functional deterioration
Maybe with dysplasia & lower tract anomalies
Common with vesicoureteral reflux

I. UPPER URINARY TRACT

3. Collecting System Abnormalities (Bauer)

5. UPJO (URETERO PELVIC

JUNCTION OBTRUCTION)

Usual cause of the most common

abdominal mass in children
(hydronephrosis)
: = 2 : 1 (in child), left side
predominanace
Episodic flank pain, flank mass,
hematuria, infection, nausea & vomiting,
uremia
Prompt surgical repair

I.

UPPER URINARY TRACT

4. Ureteral Abnormalities

1. DUPLICATION OF URETER

1 : 125, 1.6 : 1 , 85% unilateral

Autosomal dominant
Associated with reflux (42%), renal scarring
& dilation (29%), ectopic insertion (3%)

I.

UPPER URINARY TRACT

4. Ureteral Abnormalities

Usually associate with a multicystic

dysplastic kidney, distal segment
atresia is often associated with
contralateral hydronephrosis or
2.dysplasia
ATRESIA

I.

UPPER URINARY TRACT

4. Ureteral Abnormalities

3. MEGA URETER

3 : 1; left-sided 3 : 1
3 types :
- refluxing type

* primary : primary reflux mega ureter, prune-belly

* secondary : urethral obstruction, neuropathic bladder

- obstructed type

* primary (most common): intrinsic obstruction

*secondary : urethral obstruction, neuropathic bladder, extrinsic obs,
retroperitoneal tumor

- nonreflux-nonobstructed type
* primary : nonreflux nonobstructed mega ureter
* secondary : polyuria infection, remaining wide after relief of distal
obstruction

I.

UPPER URINARY TRACT

4. Ureteral Abnormalities

4. VESICOURETERAL REFLUX

1 : 1000, found in 50% infant

Grade I to V by the International Reflux Study
System
All children with VUR prophylactic AB at
the therapeutic dose (once a day)
Trimethoprim-sulfamethoxazole most
commonly used

ureter only

VESICOURETERAL REFLUX GRADING

II

ureter, pelvis, and calyces; no dilatation,

normal calyceal fornices

VESICOURETERAL REFLUX GRADING

III

Mild or moderate dilatation and/or tortuosity of

ureter and mild or moderate dilatation of renal pelvis
but no or slight blunting of fornices

IV

Moderate dilatation / tortuosity of ureter and

moderate dilatation of renal pelvis and calyces;
Complete obliteration of sharp angle of fornices but
maintenance of papillary impressions in majority of
calyces

VESICOURETERAL REFLUX GRADING

Gross dilatation & tortuosity of ureter; gross

dilatation of renal pelvis & calyces; papillary
impressions are no longer visible in majority of calyces

VESICOURETERAL REFLUX

Grade I III (minimally dilated) medically initially

Grade IV V require surgical correction
No absolute indications for surgery for reflux,
considerations which favor surgical intervention :
- breakthrough infections
-

failure to comply with AB prophylaxis regimen

persistent reflux into puberty in female
progressive scarring
worsening renal function

I.

UPPER URINARY TRACT

4. Ureteral Abnormalities

5. URETERAL ECTOPIA

1 : 1900, 3 : 1 , 10% bilateral

Associated findings :
- renal dysplasia
- incontinence & ureteral obstruction
Management : removal of the renal segment
and ectopic ureter

I. UPPER URINARY TRACT

4. Ureteral Abnormalities

6. URETEROCELE

is a cystic dilation of the intravesical submucosal

ureter.
Classification :
- simple
: intravesical with single ureter
- intravesical : entire ureterocele,
including
the usually stenotic
orifice contained within the
bladder, duplicated ureter
- ectopic : part of ureterocele,including
orifice, extends into urethra

II. LOWER

URINARY TRACT (GEARHART)

1. EXTROPHY & EPISPADIA

Origin failure of the cloacal membrane to

migrate toward the perineum
Some degree of separation of symphysis pubis
Epispadia 55% penopubic
20% penile
5% balanitic
20% female

II. LOWER

URINARY TRACT (GEARHART)

EXTROPHY & EPISPADIA

Classic exstrophy (60%)

- 1 : 50.000, 3 : 1
- Bladder & urethra are open dorsally, penis is
short & clitoris is bifid
- UDT & inguinal hernia are common
Cloacal exstrophy
- 1 : 200.000, =
- vesicointestinal fissure opening into the
center of the exstrophied bladder
- often omphalocele
- panis or clitoris is bifid or maybe absent

EXTROPHY & EPISPADIA

Managed in stages
- bladder closure in the newborn period
- epispadia repair 1 2 yrs of age
- functioning
Second option is bladder closure + bladder
neck + epispadias repair all done at a
single stage

LOWER URINARY TRACT (GEARHART)

2. URACHUS

Th/ : excision when symptomatic

In a few cases may undergo malignant
trasnformation

LOWER URINARY TRACT (GEARHART)

3. POSTERIOR URETHRAL VALVES (TYPE I)

1 : 5000 8000 in boys

> 50% diagnosed in the 1st yr of life, wiyh more severe
obstruction
Associated findings : VUR, severe renal dysplasia,
severe hydroureteronephrosis
Diagnosis :
- antenatal diagnosis
- UTI or poor stream in infant / older child
- newborn with palpable bladder & kidneys and
urinary ascites

LOWER URINARY TRACT (GEARHART)

POSTERIOR URETHRAL VALVES (TYPE I)

Management :

Sick infant bladder drainage with small

feeding tube (6F) per urethra
Healthy infant transurehtral fulguration of
valves
AB prophylaxis is maintained as long as reflux
persist

LOWER URINARY TRACT (GEARHART)

4. MEGALOURETHRA

Rare, most often with prune belly syndrome

2 types :
- scaphoid type deficiency corpus spongiosum
balloning of the urethra during voiding
- fusiform type deficiency of corpora cavernosa
as well as corpus spongiosum elongated
flaccid penis with redundant skin

III.

EXTERNAL GENITAL MALFORMATION

1. HYPOSPADIA

1 : 300 live male birth

Origin failure of mesodermal urethral folds to
converge in midline; chordee results from falilure of
urethral plate disintegration or fibrosis of inner genital
folds
Associated findings :
- UDT (9,3%)
- inguinal hernia (9%)
- upper tract anomalies (46%)

III.

EXTERNAL GENITAL MALFORMATION

EXTERNAL GENITAL MALFORMATION

III.

EXTERNAL GENITAL MALFORMATION

HYPOSPADIA
Classification :

Hypospadias without chordee meatus between

midshaft and corona
Hypospadia with chordee :
- meatus penile or penoscrotal
- meatus scrotal or perineal
Chordee with hypospadias :
- with normal urethra
- with short or hypoplastic urethra

III.

EXTERNAL GENITAL MALFORMATION

HYPOSPADIA
Management
- One-stage correction between 4 12 mo of age
is preferred
- Avoid circumcision
- Refer to urology
Complications
- Small urethrocutaneous fistulas
- Postop bleeding
- UTI
- Strictures

2. CRYPTORCHIDISM

1% of live male births

Associated findings :
- patent processus vaginalis (90%)
- infertility
- testicular malignancy 20 35 times more
common
Diagnosis must discriminate retractile from truly UDT
by careful examination

CRYPTORCHIDISM

CRYPTORCHIDISM
Management

Inguinal exploration at 6 mo of age (spontaneous

descent is rare after 3 mo)

3. HERNIA & COMMUNICATING

HYDROCELE

1 4 % of mature infants
& 13% of premature
Failed closure of
processus vaginalis after
testicular descent
Associated : frank hernia
or UDT
DD : stable hydreocele
usually reabsorbed by
12 15 mo of age No
surgery is required

HYDROCELLE NON COMUNICANTES

Sekian
Terima Kasih