CONGENITAL ANOMALIES

dr. Bungaran Sihombingdr. Syah Mirsya Warli

I. UPPER URINARY TRACT1. 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 TRACT2. 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 TRACT3. Collecting system abnormalities (Bauer) 1. Calyceal diverticulum 2. Hydrocalycosis 3. Megacalycosis 4. Infundibulopelvic stenosis 5. Ureteropelvic junction obstruction (UPJO)

UPPER URINARY TRACT4. Ureteral abnormalities 1. Duplication of ureter 2. Atresia 3. Mega-ureter 4. Vesicoureteral reflux 5. Ureteral ectopia 6. Ureterocele

II. LOWER URINARY TRACT1. Extrophy & epispadia2. Urachus3. Posterior Urethral Valves (Type I)4. Megalourethra5. Miscellaneous

III. EXTERNAL GENITAL MALFORMATION1. Hypospadia2. Cryptorchidism3. Hernia and communicating hydrocele4. Appendages

IV. CLOACAL DYSGENESIS1. Cloaca anomaly2. Vaginal Atresia & Mayer-Rokitansky-Kster-Hauser Syndrome

1. SIMPLE ECTOPIAIncidens 1 : 900, left side favoredAssociated 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 kidneyOrigin is delayed closure of diaphragmatic anlage vs overshoot of renal ascentAdrenal may or may not be thoracic I. UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

3. CROSSED ECTOPIA & FUSION1 : 1000 to 1 : 2000, 90% crossed with fusion2 : 1 male, 3 : 1 left crossedOrigin abnormal migration of ureteral bud or rotation of caudal end

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

4. HORSESHOE KIDNEY1 : 400, 2:1 malesOrigin 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 AGENESIS1 : 4800 birthsOrigin ureteral bud failure or absence of the nephrogenic ridgeAssociated 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 AGENESIS1 : 1500, 2 : 1 male, left kidney more oftenOrigin ureteral bud failure; familial trendAssociated findings : - absent ureter with hemitrigone (50%) - adrenal agenesis (10%) - genital anomaliesIf single kidney N no special precaution and survival is not affected I. UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

7. SUPERNUMERARY KIDNEYIncidens : unknownOrigin combined defect of ureteral bud & metanephrosAssociated findings : - hydronephrosis (50%) - common ureter (40%) - duplex ureter (40%) - ectopic ureter (20%) I. UPPER URINARY TRACT 1. Abnormalities of the kidney position & number

1. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASEAdult type is the most common cystic disease in humans1 : 1250, 10 % of all End Stage Renal DiseasePresent at age 30 50 yrs, can occur in childrenPain, hematuria, progressive renal insuffIVU irregular renal enlargement + calyceal distortionAssoc. findings : liver cysts, berry aneurism I. UPPER URINARY TRACT 2. Cystic abnormalities of the kidney

2. AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASEInfantile 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 diseaseEnlarged tortuous collecting ducts1 : 20.000IVU bristles on a brushComplication : infection, stones, distal renal tubular acidosis, hematuria1/3 pat with hypercalcemia I. UPPER URINARY TRACT 2. Cystic abnormalities of the kidney

4. MEDULLARY CYSTIC DISEASE (JUVENILE NEPHRONOPHTHISIS)Bilateral small kidney, amedullary cystsProgress to ESRD by age 20Juvenile type 20% of childhood renal failure deathsPolydipsia & polyuria in 80%Retinitis pigmentosa in 16% I. UPPER URINARY TRACT 2. Cystic abnormalities of the kidney

5. UNILATERAL MULTICYCTIC DYSPLASTIC KIDNEYMost common cystic disease of the newbornSecond most common abdominal mass in infant after hydronephrosisLeft kidney is more common, =

I. UPPER URINARY TRACT 2. Cystic abnormalities of the kidney

1. CALYCEAL DIVERTICULUM4,5 : 1000Origin failure of degeneration of 3rd & 4th order branches of ureteral bud In 1/3 patients stones will be formTh/ : removal stones, drainage of pus, marsupialization to the renal surface

I. UPPER URINARY TRACT 3. Collecting System Abnormalities (Bauer)

2. HYDROCALICOSIS

RareInvolving vascular compression, cicatrization or achalasia of the infundibulumRarely requires any intervention I. UPPER URINARY TRACT 3. Collecting System Abnormalities (Bauer)

3. MEGACALYCOSISRare, one or both kidneyDilated unobstructed calyces, > 25 / kidney (N : 8 10)Faulty uretral bud division, hypoplasia of juxtamedullary glomeruli & maldevelopment of calyceal musculature: = 6 : 1, only in CaucasianX-linked recessice

I. UPPER URINARY TRACT 3. Collecting System Abnormalities (Bauer)

4. INFUNDIBULOPELVIC STENOSISMay involve part or all of one or both kidneyCalyces quite largeNo progressive functional deterioration Maybe with dysplasia & lower tract anomaliesCommon 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 predominanaceEpisodic flank pain, flank mass, hematuria, infection, nausea & vomiting, uremiaPrompt surgical repair

I. UPPER URINARY TRACT 3. Collecting System Abnormalities (Bauer)

1. DUPLICATION OF URETER

1 : 125, 1.6 : 1 , 85% unilateralAutosomal dominant Associated with reflux (42%), renal scarring & dilation (29%), ectopic insertion (3%)

I. UPPER URINARY TRACT 4. Ureteral Abnormalities

2. ATRESIA

Usually associate with a multicystic dysplastic kidney, distal segment atresia is often associated with contralateral hydronephrosis or dysplasia

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 REFLUX1 : 1000, found in 50% infantGrade I to V by the International Reflux Study SystemAll children with VUR prophylactic AB at the therapeutic dose (once a day)Trimethoprim-sulfamethoxazole most commonly used

I. UPPER URINARY TRACT 4. Ureteral Abnormalities

VESICOURETERAL REFLUX GRADINGIureter onlyIIureter, pelvis, and calyces; no dilatation,normal calyceal fornices

IIIMild or moderate dilatation and/or tortuosity of ureter and mild or moderate dilatation of renal pelvis but no or slight blunting of fornicesIVModerate 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 calycesVESICOURETERAL REFLUX GRADING

VGross dilatation & tortuosity of ureter; gross dilatation of renal pelvis & calyces; papillaryimpressions are no longer visible in majority of calycesVESICOURETERAL REFLUX GRADING

VESICOURETERAL REFLUX Grade I III (minimally dilated) medically initiallyGrade IV V require surgical correctionNo 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

5. URETERAL ECTOPIA1 : 1900, 3 : 1 , 10% bilateralAssociated findings : - renal dysplasia - incontinence & ureteral obstructionManagement : 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 I. UPPER URINARY TRACT 4. Ureteral Abnormalities

1. EXTROPHY & EPISPADIAOrigin failure of the cloacal membrane to migrate toward the perineumSome degree of separation of symphysis pubisEpispadia 55% penopubic 20% penile 5% balanitic 20% female

II. LOWER URINARY TRACT (GEARHART)

EXTROPHY & EPISPADIAClassic 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 II. LOWER URINARY TRACT (GEARHART)

EXTROPHY & EPISPADIAManaged in stages - bladder closure in the newborn period- epispadia repair 1 2 yrs of age - functioningSecond option is bladder closure + bladder neck + epispadias repair all done at a single stage

2. URACHUS

Th/ : excision when symptomaticIn 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 obstructionAssociated findings : VUR, severe renal dysplasia, severe hydroureteronephrosisDiagnosis : - 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 urethraHealthy infant transurehtral fulguration of valvesAB prophylaxis is maintained as long as refluxpersist LOWER URINARY TRACT (GEARHART)

4. MEGALOURETHRARare, most often with prune belly syndrome2 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)

1. HYPOSPADIA1 : 300 live male birthOrigin failure of mesodermal urethral folds to converge in midline; chordee results from falilure of urethral plate disintegration or fibrosis of inner genital foldsAssociated findings : - UDT (9,3%) - inguinal hernia (9%) - upper tract anomalies (46%) III. EXTERNAL GENITAL MALFORMATION

III. EXTERNAL GENITAL MALFORMATION

EXTERNAL GENITAL MALFORMATION

HYPOSPADIAClassification :Hypospadias without chordee meatus between midshaft and coronaHypospadia with chordee :- meatus penile or penoscrotal - meatus scrotal or perinealChordee with hypospadias :- with normal urethra- with short or hypoplastic urethra III. EXTERNAL GENITAL MALFORMATION

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

III. EXTERNAL GENITAL MALFORMATION

2. CRYPTORCHIDISM1% of live male birthsAssociated findings : - patent processus vaginalis (90%) - infertility - testicular malignancy 20 35 times more commonDiagnosis must discriminate retractile from truly UDT by careful examination

CRYPTORCHIDISM

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

3. HERNIA & COMMUNICATING HYDROCELE1 4 % of mature infants & 13% of premature Failed closure of processus vaginalis after testicular descentAssociated : frank hernia or UDTDD : stable hydreocele usually reabsorbed by 12 15 mo of age No surgery is required

HYDROCELLE NON COMUNICANTES

Sekian

Terima Kasih

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