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

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

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 Congenital anomalies

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

UPPER URINARY TRACT Ureteral abnormalities 1. Duplication of ureter 2. Atresia 3. Mega-ureter 4. Vesicoureteral reflux 5. Ureteral ectopia 6. Ureterocele Congenital anomalies

LOWER URINARY TRACT Extrophy & epispadia Urachus Posterior Urethral Valves (Type I) Megalourethra Miscellaneous Congenital anomalies

EXTERNAL GENITAL MALFORMATION Hypospadia Cryptorchidism Hernia and communicating hydrocele appendages Congenital anomalies

CLOACAL DYSGENESIS Cloaca anomaly Vaginal Atresia & Mayer-Rokitansky-Küster-Hauser Syndrome 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

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 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 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 ½ - 6 wks of gestation) Associated findings : - anomalous vessels - skeletal, CV, CNS anomalies - hypospadias & cryptorchidism, UTI, stone, etc Excluding other anomalies, survival isn t affected UPPER URINARY TRACT-- Abnormalities of the kidney position & number

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

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

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

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

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 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 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% 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, = UPPER URINARY TRACT Cystic abnormalities of the kidney

CALYCEAL DIVERTICULUM 4,5 : 1000 Origin failure of degeneration of 3 rd & 4 th 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 TRACT Collecting System Abnormalities (Bauer)

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

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 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 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

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 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 ¼ the therapeutic dose (once a day) Trimethoprim-sulfamethoxazole most commonly used UPPER URINARY TRACT Ureteral Abnormalities

VESICOURETERAL REFLUX Grading I ureter only 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 V Gross dilatation & tortuosity of ureter; gross dilatation of renal pelvis & calyces; papillary impressions are no longer visible in majority of calyces

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

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 UPPER URINARY TRACT Ureteral Abnormalities

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 UPPER URINARY TRACT Ureteral Abnormalities

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 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 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 LOWER URINARY TRACT (GEARHART)

URACHUS Th/ : excision when symptomatic In a few cases may undergo malignant trasnformation LOWER URINARY TRACT (GEARHART)

POSTERIOR URETHRAL VALVES (TYPE I) 1 : 5000 8000 in boys > 50% diagnosed in the 1 st 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)

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)

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)

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

EXTERNAL GENITAL MALFORMATION

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

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