CONGENITAL ANOMALIES

UROLOGY SUB DIVISION DEPARTMENT OF SURGERY MEDICAL SCHOOL UNIVERSITY OF SUMATERA UTARA

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
Congenital anomalies

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

UPPER URINARY TRACT

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

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

UPPER URINARY TRACT

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

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

LOWER URINARY TRACT

Extrophy & epispadia Urachus Posterior Urethral Valves (Type I) Megalourethra Miscellaneous

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

EXTERNAL GENITAL MALFORMATION

Hypospadia Cryptorchidism Hernia and communicating hydrocele appendages

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

CLOACAL DYSGENESIS

Cloaca anomaly Vaginal Atresia & Mayer-Rokitansky-Kster-Hauser Syndrome

Dr. Syah Mirsya Warli, SpU

Congenital anomalies

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

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

Dr. Syah Mirsya Warli, SpU

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

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

Dr. Syah Mirsya Warli, SpU

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

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, etc Excluding other anomalies, survival isnt affected
UPPER URINARY TRACT-- Abnormalities of the kidney position & number

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

SUPERNUMERARY KIDNEY

Incidens : unknown Origin combined defect of ureteral bud & metanephros Associated findings : - hydronephrosis (50%) - common ureter (40%) - duplex ureter (40%) - ectopic ureter (20%)
UPPER URINARY TRACT-- Abnormalities of the kidney position & number

Dr. Syah Mirsya Warli, SpU

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 + calyceal distortion Assoc. findings : liver cysts, berry aneurism
UPPER URINARY TRACT Cystic abnormalities of the kidney

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Cystic abnormalities of the kidney

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Cystic abnormalities of the kidney

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%

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Cystic abnormalities of the kidney

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, =

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Cystic abnormalities of the kidney

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Collecting System Abnormalities (Bauer)

HYDROCALICOSIS

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Collecting System Abnormalities (Bauer)

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
UPPER URINARY TRACT Collecting System Abnormalities (Bauer)

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Collecting System Abnormalities (Bauer)

UPJO (uretero pelvic junction obstruction)

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Collecting System Abnormalities (Bauer)

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 often associated with contralateral hydronephrosis or dysplasia
UPPER URINARY TRACT Ureteral Abnormalities

Dr. Syah Mirsya Warli, SpU

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
Dr. Syah Mirsya Warli, SpU
UPPER URINARY TRACT Ureteral Abnormalities

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

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Ureteral Abnormalities

VESICOURETERAL REFLUX Grading

I ureter only

II

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

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

VESICOURETERAL REFLUX Grading

Gross dilatation & tortuosity of ureter; gross dilatation of renal pelvis & calyces; papillary impressions are no longer visible in majority of calyces

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

Vesicoureteral Reflux (VUR)

Vesicoureteral Reflux (VUR)

URETERAL ECTOPIA

1 : 1900, 3 : 1 , 10% bilateral Associated findings : - renal dysplasia - incontinence & ureteral obstruction Management : removal of the renal segment and ectopic ureter

Dr. Syah Mirsya Warli, SpU

UPPER URINARY TRACT Ureteral Abnormalities

URETEROCELE

1 : 500, 4 : 1 Classification :
- simple - intravesical : intravesical with single ureter : entire ureterocele, including the usually stenotic orifice contained within the bladder, duplicated ureter : part of ureterocele, including orifice, extends into urethra
UPPER URINARY TRACT Ureteral Abnormalities

- ectopic
Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

LOWER URINARY TRACT (GEARHART)

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

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

Dr. Syah Mirsya Warli, SpU

LOWER URINARY TRACT (GEARHART)

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

Dr. Syah Mirsya Warli, SpU

LOWER URINARY TRACT (GEARHART)

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

Dr. Syah Mirsya Warli, SpU

LOWER URINARY TRACT (GEARHART)

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
LOWER URINARY TRACT (GEARHART)

Dr. Syah Mirsya Warli, SpU

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%)
EXTERNAL GENITAL MALFORMATION

Dr. Syah Mirsya Warli, SpU

Dr. Syah Mirsya Warli, SpU

EXTERNAL GENITAL MALFORMATION

Dr. Syah Mirsya Warli, SpU

EXTERNAL GENITAL MALFORMATION

classification

Hypospadias without chordee meatus betwwen midshaft and corona Hypospadia with chordee : - meatus penile or penoscrotal after release of chordee - meatus scrotal or perineal Chordee with hypospadias : - with normal urethra - with short or hypoplastic urethra
EXTERNAL GENITAL MALFORMATION

Dr. Syah Mirsya Warli, SpU

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

Dr. Syah Mirsya Warli, SpU

EXTERNAL GENITAL MALFORMATION

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

Management

Inguinal exploration at 6 mo of age (spontaneous descent is rare after 3 mo)

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

HYDROCELE

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