Upload
pariksit-anumanthan
View
241
Download
0
Embed Size (px)
Citation preview
8/10/2019 K-25 Congenital Anomalies
1/64
CONGENITAL ANOMALIES
UROLOGY SUB DIVISION
DEPARTMENT OF SURGERY
MEDICAL SCHOOL
UNIVERSITY OF SUMATERA UTARA
8/10/2019 K-25 Congenital Anomalies
2/64
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
8/10/2019 K-25 Congenital Anomalies
3/64
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
8/10/2019 K-25 Congenital Anomalies
4/64
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
8/10/2019 K-25 Congenital Anomalies
5/64
UPPER URINARY TRACT
Ureteral abnormalities
1. Duplication of ureter
2. Atresia
3. Mega-ureter
4. Vesicoureteral reflux
5. Ureteral ectopia6. Ureterocele
Dr. Syah Mirsya Warli, SpU Congenital anomalies
8/10/2019 K-25 Congenital Anomalies
6/64
LOWER URINARY TRACT
Extrophy & epispadia
Urachus
Posterior Urethral Valves (Type I)
Megalourethra
Miscellaneous
Dr. Syah Mirsya Warli, SpU Congenital anomalies
8/10/2019 K-25 Congenital Anomalies
7/64
EXTERNAL GENITAL MALFORMATION
Hypospadia
Cryptorchidism
Hernia and communicating hydrocele
appendages
Dr. Syah Mirsya Warli, SpU Congenital anomalies
8/10/2019 K-25 Congenital Anomalies
8/64
CLOACAL DYSGENESIS
Cloaca anomaly
Vaginal Atresia &Mayer-Rokitansky-Kster-Hauser Syndrome
Dr. Syah Mirsya Warli, SpU Congenital anomalies
8/10/2019 K-25 Congenital Anomalies
9/64
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
8/10/2019 K-25 Congenital Anomalies
10/64
THORACICECTOPIA
< 5% of ectopic kidney
Origin is delayed closure ofdiaphragmatic anlage vs overshoot of
renal ascent
Adrenal may or may not be thoracic
UPPER URINARY TRACT--Abnormalities of the kidney position & number
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
11/64
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
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
12/64
HORSESHOE KIDNEY
1 : 400, 2:1 males
Origin fusion of lower poles before or duringrotation (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
8/10/2019 K-25 Congenital Anomalies
13/64
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
8/10/2019 K-25 Congenital Anomalies
14/64
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
8/10/2019 K-25 Congenital Anomalies
15/64
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
8/10/2019 K-25 Congenital Anomalies
16/64
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
8/10/2019 K-25 Congenital Anomalies
17/64
Autosomal recessive polycystic
kidney disease
Infantile type, rare (1 : 10.000)
IVU streaked appearance (sunburstpattern)
Usually die within the first 2 mo of life
UPPER URINARY TRACTCystic abnormalities of the kidneyDr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
18/64
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 TRACTCystic abnormalities of the kidneyDr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
19/64
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%
UPPER URINARY TRACTCystic abnormalities of the kidneyDr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
20/64
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
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
21/64
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)
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
22/64
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)
8/10/2019 K-25 Congenital Anomalies
23/64
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 TRACTCollecting System Abnormalities (Bauer)
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
24/64
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 TRACTCollecting System Abnormalities (Bauer)
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
25/64
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
UPPER URINARY TRACTCollecting System Abnormalities (Bauer)
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
26/64
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
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
27/64
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
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
28/64
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
8/10/2019 K-25 Congenital Anomalies
29/64
VESICOURETERAL REFLUX
Grading
I ureter only
II ureter, pelvis, and calyces; no dilatation,normal calyceal fornices
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
30/64
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
Dr. Syah Mirsya Warli, SpU
VESICOURETERAL REFLUX
Grading
8/10/2019 K-25 Congenital Anomalies
31/64
V Gross dilatation & tortuosity of ureter; grossdilatation of renal pelvis & calyces; papillary
impressions are no longer visible in majority of calyces
Dr. Syah Mirsya Warli, SpU
VESICOURETERAL REFLUX
Grading
8/10/2019 K-25 Congenital Anomalies
32/64
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
8/10/2019 K-25 Congenital Anomalies
33/64
8/10/2019 K-25 Congenital Anomalies
34/64
Vesicoureteral Reflux (VUR)
8/10/2019 K-25 Congenital Anomalies
35/64
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 TRACTUreteral Abnormalities
8/10/2019 K-25 Congenital Anomalies
36/64
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
Dr. Syah Mirsya Warli, SpU UPPER URINARY TRACTUreteral Abnormalities
8/10/2019 K-25 Congenital Anomalies
37/64
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)
Dr. Syah Mirsya Warli, SpU
8/10/2019 K-25 Congenital Anomalies
38/64
8/10/2019 K-25 Congenital Anomalies
39/64
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)
8/10/2019 K-25 Congenital Anomalies
40/64
26
8/10/2019 K-25 Congenital Anomalies
41/64
8/10/2019 K-25 Congenital Anomalies
42/64
8/10/2019 K-25 Congenital Anomalies
43/64
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)
8/10/2019 K-25 Congenital Anomalies
44/64
8/10/2019 K-25 Congenital Anomalies
45/64
8/10/2019 K-25 Congenital Anomalies
46/64
8/10/2019 K-25 Congenital Anomalies
47/64
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
Dr. Syah Mirsya Warli, SpU LOWER URINARY TRACT (GEARHART)
8/10/2019 K-25 Congenital Anomalies
48/64
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)
8/10/2019 K-25 Congenital Anomalies
49/64
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
Dr. Syah Mirsya Warli, SpU LOWER URINARY TRACT (GEARHART)
8/10/2019 K-25 Congenital Anomalies
50/64
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
Associated findings :
- UDT (9,3%)
- inguinal hernia (9%)
- upper tract anomalies (46%)
Dr. Syah Mirsya Warli, SpU EXTERNAL GENITAL MALFORMATION
8/10/2019 K-25 Congenital Anomalies
51/64
Dr. Syah Mirsya Warli, SpU EXTERNAL GENITAL MALFORMATION
8/10/2019 K-25 Congenital Anomalies
52/64
Dr. Syah Mirsya Warli, SpU EXTERNAL GENITAL MALFORMATION
8/10/2019 K-25 Congenital Anomalies
53/64
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
Dr. Syah Mirsya Warli, SpU EXTERNAL GENITAL MALFORMATION
8/10/2019 K-25 Congenital Anomalies
54/64
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
8/10/2019 K-25 Congenital Anomalies
55/64
CRYPTORCHIDISM
1% of live male births
Associated findings :
- patent processus vaginalis (90%)
- infertility
- testicular malignancy 20 35 times more
common
Diagnosis must discriminate retractile fromtruly UDT by careful examination
8/10/2019 K-25 Congenital Anomalies
56/64
8/10/2019 K-25 Congenital Anomalies
57/64
Management
Inguinal exploration at 6 mo of age
(spontaneous descent is rare after 3 mo)
8/10/2019 K-25 Congenital Anomalies
58/64
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
8/10/2019 K-25 Congenital Anomalies
59/64
8/10/2019 K-25 Congenital Anomalies
60/64
8/10/2019 K-25 Congenital Anomalies
61/64
8/10/2019 K-25 Congenital Anomalies
62/64
HYDROCELE
8/10/2019 K-25 Congenital Anomalies
63/64
8/10/2019 K-25 Congenital Anomalies
64/64