k-25 congenital anomalies

8/10/2019 K-25 Congenital Anomalies

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CONGENITAL ANOMALIES

UROLOGY SUB DIVISION

DEPARTMENT OF SURGERY

MEDICAL SCHOOL

UNIVERSITY OF SUMATERA UTARA


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UPPER URINARY TRACT

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

Dr. Syah Mirsya Warli, SpU Congenital anomalies


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UPPER URINARY TRACT

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



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UPPER URINARY TRACT

Collecting system abnormalities (Bauer)

1. Calyceal diverticulum

2. Hydrocalycosis

3. Megacalycosis

4. Infundibulopelvic stenosis

5. Ureteropelvic junction obstruction (UPJO)



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UPPER URINARY TRACT

Ureteral abnormalities

1. Duplication of ureter

2. Atresia

3. Mega-ureter

4. Vesicoureteral reflux

5. Ureteral ectopia6. Ureterocele



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LOWER URINARY TRACT

Extrophy & epispadia

Urachus

Posterior Urethral Valves (Type I)

Megalourethra

Miscellaneous



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EXTERNAL GENITAL MALFORMATION

Hypospadia

Cryptorchidism

Hernia and communicating hydrocele

appendages



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CLOACAL DYSGENESIS

Cloaca anomaly

Vaginal Atresia &Mayer-Rokitansky-Kster-Hauser Syndrome



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SIMPLE ECTOPIA

Incidens 1 : 900, left side favored

Associated findings :

- Small size with persistent fetal lobulation- Anomalous vasculature

- Contralateral agenesis

- VUR

- undescended testes, hypospadia

- urethral duplication (10-20% male)

- skeletal & cardiac anomalies (20%)

UPPER URINARY TRACT--Abnormalities of the kidney position & number

Dr. Syah Mirsya Warli, SpU


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THORACICECTOPIA

< 5% of ectopic kidney

Origin is delayed closure ofdiaphragmatic anlage vs overshoot of

renal ascent

Adrenal may or may not be thoracic




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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




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HORSESHOE KIDNEY

1 : 400, 2:1 males

Origin fusion of lower poles before or duringrotation (4 - 6 wks of gestation)


- anomalous vessels

- skeletal, CV, CNS anomalies

- hypospadias & cryptorchidism, UTI, stone, etc Excluding other anomalies, survival isnt

affected




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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




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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




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SUPERNUMERARY KIDNEY

Incidens : unknown

Origin combined defect of ureteral bud &

metanephros Associated findings :

- hydronephrosis (50%)

- common ureter (40%)- duplex ureter (40%)

- ectopic ureter (20%)




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Autosomal dominant polycystic

kidney disease

Adult type is the most common cystic disease in

humans

1 : 1250, 10 % of all ESRD

Present at age 30 50 yrs, can occur in children

Pain, hematuria, progressive renal insuff

IVU irregular renal enlargement + calycealdistortion

Assoc. findings : liver cysts, berry aneurism

UPPER URINARY TRACTCystic abnormalities of the kidneyDr. Syah Mirsya Warli, SpU


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Autosomal recessive polycystic

kidney disease

Infantile type, rare (1 : 10.000)

IVU streaked appearance (sunburstpattern)

Usually die within the first 2 mo of life



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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



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Medullary cystic disease (juvenile

nephronophthisis)

Bilateral small kidney, amedullary cysts

Progress to ESRD by age 20 Juvenile type20% of childhood renal failure

deaths

Polydipsia & polyuria in 80%

Retinitis pigmentosa in 16%



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Unilateral multicyctic dysplastic

kidney

Most common cystic disease of the newborn

Second most common abdominal mass ininfant after hydronephrosis

Left kidney is more common, =

UPPER URINARY TRACTCystic abnormalities of the kidney



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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

UPPER URINARY TRACTCollecting System Abnormalities (Bauer)



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HYDROCALICOSIS

Rare

Involving vascular compression, cicatrizationor achalasia of the infundibulum

Rarely requires any intervention

Dr. Syah Mirsya Warli, SpU UPPER URINARY TRACTCollecting System Abnormalities (Bauer)


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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




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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




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UPJO (uretero pelvic junction

obstruction)

Usual cause of the most common abdominal

mass in children (hydronephrosis)

: = 2 : 1 (in child), left sidepredominanace

Episodic flank pain, flank mass, hematuria,

infection, nausea & vomiting, uremia

Prompt surgical repair




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DUPLICATION OF URETER

1 : 125, 1.6 : 1 , 85% unilateral Autosomal dominant

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

ATRESIA Usually associate with a multicystic dysplastic

kidney, distal segment atresia is oftenassociated with contralateral hydronephrosis ordysplasia

UPPER URINARY TRACTUreteral Abnormalities



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MEGA URETER

3 : 1 ; 3 : 1 left-sided

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

UPPER URINARY TRACTUreteral Abnormalities



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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 mostcommonly used

Dr. Syah Mirsya Warli, SpU UPPER URINARY TRACTUreteral Abnormalities


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Grading

I ureter only

II ureter, pelvis, and calyces; no dilatation,normal calyceal fornices



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III Mild or moderate dilatation and/or tortuosity of ureter andmild or moderate dilatation of renal pelvis but no or slight

blunting of fornices

IV Moderate dilatation / tortuosity of ureter andmoderate dilatation of renal pelvis and calyces;

Complete obliteration of sharp angle of fornices butmaintenance of papillary impressions in majority of

calyces



Grading


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V Gross dilatation & tortuosity of ureter; grossdilatation of renal pelvis & calyces; papillary

impressions are no longer visible in majority of calyces



Grading


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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



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Vesicoureteral Reflux (VUR)


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URETERAL ECTOPIA

1 : 1900, 3 : 1 , 10% bilateral


- renal dysplasia

- incontinence & ureteral obstruction

Management : removal of the renal segment

and ectopic ureter



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URETEROCELE

1 : 500, 4 : 1

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



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EXTROPHY & EPISPADIA

Origin failure of the cloacal membrane tomigrate toward the perineum

Some degree of separation of symphysis pubis Epispadia 55% penopubic

20% penile

5% balanitic20% female

LOWER URINARY TRACT (GEARHART)



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Classic exstrophy (60%)

- 1 : 50.000, 3 : 1

- Bladder & urethra are open dorsally, penis isshort & 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

Dr. Syah Mirsya Warli, SpU LOWER URINARY TRACT (GEARHART)


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Management

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



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POSTERIOR URETHRAL VALVES (TYPE I)

1 : 5000 8000 in boys

> 50% diagnosed in the 1styr 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



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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



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MEGALOURETHRA

Rare, most often with prune belly syndrome

2 types :

- scaphoid typedeficiency corpus spongiosum

balloning of the urethra during voiding

- fusiform typedeficiency of corpora cavernosa

as well as corpus spongiosum elongated

flaccid penis with redundant skin



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HYPOSPADIA

1 : 300 live male birth

Origin failure of mesodermal urethral folds

to converge in midline; chordee results from

falilure of urethral plate disintegration orfibrosis of inner genital folds


- UDT (9,3%)

- inguinal hernia (9%)

- upper tract anomalies (46%)

Dr. Syah Mirsya Warli, SpU EXTERNAL GENITAL MALFORMATION


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classification

Hypospadias without chordee meatusbetwwen midshaft and corona

Hypospadia with chordee :

- meatus penile or penoscrotal after release ofchordee

- meatus scrotal or perineal

Chordee with hypospadias :- with normal urethra

- with short or hypoplastic urethra



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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



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CRYPTORCHIDISM

1% of live male births


- patent processus vaginalis (90%)

- infertility

- testicular malignancy 20 35 times more

common

Diagnosis must discriminate retractile fromtruly UDT by careful examination


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Management

Inguinal exploration at 6 mo of age

(spontaneous descent is rare after 3 mo)


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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


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HYDROCELE


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k-25 congenital anomalies

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