Congenital Abnormality

Emberyology
1- upper UT:-
-pronephros is precursor of kidney, derived from
mesoderm, then regress
-mesonephros , associated with 2 ducts
mesonephric (wolffian) and paramesonephric
- Ureteric buds and colleting system grow from
mesonephric duct, to stimulate the formation of
metanephros ( permanent kidney)
- Urine production starts at 10 weeks
- Paramesonephric duct forms female genital
tract, it regress in male
- Mesonephric duct form male genital tract
(epid., vase, SV, and central zone of prostate)
2- lower UT:-
- Cloaca subdivided into urogenital canal anter.
And anorectal canal post., bladder formed
from upper part of urogenital canal ( trigone
develops separately from mesonephric duct)
- Inferior portion of urogenital canal forms
urethra
TRIGONE
 1-UDT
• First phase of testicular descend occurs under
influence of MIS at 7-8 weeks gestation
• 2nd phase of descend through ing canal to
scrotum at 24 to 28 weeks under influence of
testosterone
• Incidence 4% for full term, many will descend
spontaneously
 Classification
1- retractile….due to cremastric reflex
2-ectopic 5%, ….
3-UDT 95%...
• Risk factors:-
1-preterm infants
2- LBW
3-Twins
4-F.H of UDT
• Etiology:-
- Abnormal testes or gubernaculum ( that
guides testes into scrotum)
- Endocrine abnormality as low testosterone or
MIS
- Decreased intra-abd press. As in prune belly
syndrome
Gubernaculum
• Complications if not treated:-
-increase test. Cancer in UDT and in
contralateral normally descended testes
- Reduced fertility….
- Testicular torsion….
- Increased risk of indirect ing hernia
 Diagnosis
1- examination
2-for non palpable testes do diagnostic
laparoscopy or MRI
 Management
• Orchidopexy at 6-18 months
 2- Antenatal hydronephrosis
- Defined as AP renal pelvis diameter of > or
equal to 5 mm on antenatal US
- Incidence is 0.6%
- 65 % will resolve and less than 5 % need
intervention
• Causes:-
-transient hydroneph 50%
-physiologic hydro 15%
-others as PUJO ( no ureteric dilatation), VUR
(dilation of ureter and sometime collecting
system down to bladder) , megaureter (dilated
ureter) and post urethral valve (bilateral HUN
and thick wall bladder and dilated post urethra)
PUJO
VUR
MEGAURETER
PUV
 Management
• Prophylactic Abx (trimethoprim) till Dx
established
• Do post natal US at 1 and 6 weeks post natal
….
• Treat the cause accordingly
 3- VUR
• Result from abnormal retrograde of urine
from bladder to upper UT
• Incidence 1-2%, more in girls
 Pathogenesis
• Abnormal ratio between intramural ureteric
length to ureteric diameter ( less than 5 :1)
• Ureteric orifice changed to stadium , golf hole
or patulous
Ratio between intramural ureteric length to
ureteric diameter
Normal UO
 Classification
• Primary…
• Secondary…
• Presentation with UTI, failure to
thrive ,vomiting…
• Investigation:-
- Urine analysis and culture
- US
- DMSA…
- MCUG
Grades
 Management
• Majority of primary VUR grades 1-3 resolve
spont. With age…..
• Proph Abx
• Surgery indicated in high grade VUR, recurrent
UTI despite proph Abx
• Surgery can be endoscopic injection of bulking
agent or ureteric re-implant
• In 2ndry VUR treat the cause
Endoscopic injection in VUR
 4- Duplex kidney
• Has lower and upper moiety, ureter can join
( incomplete ), or pass individually to bladder
(complete)
Weigert-Meyer rule
 5- PUJO
• Blockage of ureter at junction with renal pelvis
• More in boys, bilateral in 10-40%
• Etiology:-
-intrinsic causes as abnormal development of
ureter or renal pelvis muscles , abnormal
collagen or polyps
- Extrinsic as compression of PUJ by aberant
crossing vess
Compression of PUJ by aberant crossing vess
• Presentation :-
- Abdominal mass
- UTI
- Hematuria following minor trauma
• Diagnostic test is ….
MAG3
PUJ OBESTRUCTION
 Management
• Prorph Abx if recurrent UTI
• Pyeloplasty if symptomatic, impaired renal
function (<40%),recurrent UTI with proph ABx
 6- post. Urethral valve
• Congenital membrane attach to ant. Urethra
beyond external sphincter, causing
obestruction
• On antenatal US, bilat HUN, thick wall bladder,
dilated post urethra, oligohydr. And
pulmonary hypoplasia
PUV
MCUG
MCUG IN PUV
• Treatment by proph Abx, definite therapy by
transurethral ablation of valve
Transurethral ablation
 7- Hyposapdias
• Opening of meatus on ventral aspect of penis
• Can be :-
-Anterior .. Glandular, coronal and subcoronal
-middle …shaft of penis
-post….penoscrotal, scrotal and perineal
Hypospadius
• Etiology:-
- Incomplete closure of urethral folds
- Due to defect in fetal androgen or its receptors
• Treatment :-
- Repair between 6-18 months
- Can be single stage or two stages
 8- Epispadias
- Meatus opens on dorsal surface of penis
- Less common than hypospadias
- Usually part of exstrophy-epispadias