The document describes various congenital abnormalities of the kidney and urinary tract that can occur during fetal development, including dysgenesis (absence or underdevelopment), abnormalities in shape and position, and abnormalities of the collecting system. Specific conditions discussed include renal agenesis, hypoplasia, dysplasia, ectopic or fused kidneys, hydronephrosis, bladder extrophy, posterior urethral valves, patent urachus, and pelviureteric junction stenosis. Causes, signs and symptoms, diagnosis, and treatment approaches are provided for each condition.

1. Company
LOGO
CONGENITAL ABNORMALITIES
Kidney and Urinary Tract

2. Abnormalities during development:
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1.Dysgenesis of the Kidney
a- Renal Agenesis(absent Kidney)
b- Renal Hypoplasia
c-Renal dysplasia
2.Abnormalities in shape &position:
a. Ectopic Kidney
b. Fusion Anomalies
 horseshoe Kidney
 crossed fused Ectopia

3. 3.Abnormalities of the collecting system:
• Hydronephrosis
• Bladder extrophy
• PUV
• Patent Urachus
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4. 1.Dysgenesis of the Kidney
a. Renal Agenesis
b.Renal Hypoplasia
c-Renal dysplasia
4

5. RENAL
AGENESIS
5
• Kidney is either absent or undeveloped.
• It usually causes no symptoms and is found
incidental
• It is due to failure of ureteric bud formation or
mesenchymal blastoma differentiation of final
mesenchymal condensation.
• 1:500 – 1:3200 live births

6. 6
ETIOLO
GY
• There is no family history, but in 20-
36% of cases, there is a genetic
cause.
• The risk of recurrence in future
pregnancies is 3% unless one parent has
unilateral renal agenesis, in which case
the risk is about 15%.
• Women with uncontrolled diabetes in
pregnancy may deliver a baby with
bilateral renal agenesis.

7. UNILATER
AL
BILATER
AL
7

8. a) Unilateral Renal Agenesis
 It is common and not usually of any major health
consequence, as long as the other kidney is healthy.
 It is associated with an increased incidence of
mullerian duct abnormalities which are
abnormalities of the development
of the female reproductive tract
and can be a cause of infertility.
 People with this condition are
advised to approach contact sports with caution.
8

9. CLINICAL MANIFESTATIONS
9
 no other symptoms at all.
 premature birth.
 low-set ears (This is because the ears
and kidneys are formed at the same
time in fetal development)
 The ureters may also be abnormal

10. b) Bilateral renal agenesis
 It is the uncommon and serious failure of both a fetus'
kidneys to develop during gestation.
 The malformations associated to this is known as
Potters Syndrome. This absence of kidneys causes
oligohydramnios, which can place extra pressure on
the developing baby and cause further malformations.
The condition is frequently, but not always the result
of a genetic disorder.
 It is more common in infants born to one or more
parents with a malformed or absent kidney. Males are
more commonly affected and most infants that are
born alive do not live beyond four hours. 10

11. CLINICAL MANIFESTATIONS
ems
They may have a number of unique characteristics:
 dry loose skin
 wide-set eyes
 prominent folds at the inner corner of each eye
 sharp nose
 large low-set ears with lack of ear cartilage
 underdeveloped lungs
 absent urinary bladder
 anal atresia
 esophageal atresia
 unusual genitals
 The lack of amniotic fluid causes some of the probl
(undeveloped lungs, sharp nose, clubbed feet)
11

12. DIAGNOSIS
12
In a fetal ultrasound there will
be a lack of amniotic fluid. It is
detected by US at 12th wk of
gestation.

13. TREATMENT
13
1.Short-term treatment
 Bilateral renal agenesis is fatal. If one kidney is present,the
child will develop normally. The remaining kidney, if properly
functioning, can very effectively remove the wastes from the
blood and keep the body entirely healthy.
 Once detected, families where renal agenesis has occurred
will be offered genetic counseling because of the possibility
of recurrence in future pregnancies.

14. 2.Long-term treatment
14
 Protect the remaining kidney from infection
or injury.
 Periodic examinations of the kidney
prompt treatment of
and
any urinary tract
infection is required.
 Counselling to avoid contact sports where
the kidney could be injured.

15. NURSING MANAGEMENT
15
 Protecting the kidney function.
 low dose of an antibiotic to take once a day
to prevent kidney infection and damage.
 Blood pressure should be carefully
monitored and elevations treated.
 Dialysis or kidney transplant is preferred
when the solitary kidney has ceased to
function.

16. b)Renal hypoplasia
This appears as one small kidney
with the other one larger. It occurs
due to the partial development of
kidney. Small kidneys also have
small arteries and are
associated with
hypertension
requiring
nephrectomy.
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17. c)Renal dysplasia
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Multicystic dysplastic kidney results
from the malformation of the kidney
during fetal development. The kidney
consists of irregular cysts of varying
sizes and has no function.
It is the most common type of renal
cystic disease, and it is one of the most
common causes of an abdominal mass
in infants.

18. TYPES
• Bilateral
•Unilateral
INCIDENCE
• the disease is found to be bila
teral in 19% to 34% of cases.
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19. CLINICAL MANIFESTATIONS
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19
• Those with bilateral disease often have other s
evere deformities .
• In bilateral cases, the newborn has the classic
abnormal facies
• Oligohydramnios
• Characteristic of Potter's syndrome
• Contralateral ureteropelvic junction
• Hypertension
• (Malignant transformation to Wilm's tumor has
been reported)

20. DIAGNOSIS
Antenatal ultrasound about 28
weeks, with a range of 21 to 35
weeks.
20

21. TREATMENT
• It is not treatable.
• observe periodically for the first
few years to ensure the healthy
kidney is functioning properly and
that the unhealthy kidney is not
causing adverse effects.
• In case of renal hypertension or
malignant transformation, the un
healthy kidney is removed entirel
y.
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22. CONSERVATIVE MANAGEMENT
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22
• cysts < 5cm , high chance of involution, or cause no prob
lems.
• reviewed annually for:
- BP
- urinary protein.
- US for cysts involution, of MCDK.
growth of contra-lateral kidney.
Up to 2yrs of age then at 5yrs of age if normal.
• Nephrectomy:
1- no involution by 2 yrs of age.
2- HTN
3- infections

23. COMPLICATIONS
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23
• Malignancy: Wilm's’ tumor, adenocarcinoma&
embryonic carcinoma.
• HTN: cured by nephrectomy.
• Infection, bleeding into, or rupture of cysts if
large.

24. 2.Abnormalities in shape &position:
a. Ectopic Kidney
b. Fusion Anomalies
 horseshoe Kidney
 crossed fused Ectopia
24

25. a)Ectopic kidey
Renal ectopia or ectopic
kidney describes a kidney
that is not located in its
usual position. It results
from the kidney failing to
ascend from its origin in the
true pelvis or from a
superiorly ascended kidney
located in the thorax.
25

26. b)Fusion anomalies
1. Horse Shoe Kidney
It developswhen the lower poles of
the kidneys are fused in
the midline dueto
fusion of ureteric buds
during
development. These kidneys
are
prone to develop wilms
tumour
feta
l
mor
e
than
general. Diagnosis could be done with
IVP. Surgery is indicated when
uncontrolled urinary infections result in
pyelonephritis.
26

27. 2.Crossed fused ectopia
• In this abnormality, both the kidneys are
located on the same side with two
separate ureters arising from the
respective kidneys. The ureter arising
from the crossed over kidney travels
back to the opposite side and inserts in
the bladder.
• This congenital anomaly is the result of
the abnormal development of the
ureteric bud and metanephric blastema
during the fourth to eighth weeks of
gestation.
27

28. 3.Abnormalities of the collecting system:
• Hydronephrosis
• Bladder extrophy
• PUV
• Patent Urachus
28

29. a) Hydronephrosis
It is the dilatation of the renal pelvis which
may be found as unilateral or bilateral. It
may be due to obstruction of urine flow in
the distal urinary tract or reflux of urine up
the ipsilateral ureter or due to bladder neck
obstruction or urethral
obstruction.
29

30. ETIOLOGY
Uretero Pelvic Junction Obstruction
Vesico Urethral Reflux
Megaureter
Ureterocoele
PUV
30

31. CLINICAL MANIFESTATIONS
31
urinary infections
large abdominal mass
abdominal pain
failure to thrive
anemia
hypertension
Hematuria
renal failure.

32. DIAGNOSIS
32
 Antenatal US ( 18-20WKS)
- severity of antenatal US
- Unilateral vs. bilateral
- Renal parenchyma thin
- Bladder
- Amniotic fluid
 Postnatal
Physical exam: Abdominal mass, palpable bladder
 USG
 IVP
 MCU
 diuretic isotoperenography

33. MANAGEMENT
33
Surgical removal or pyloplasty is done and
in case of complication nephrectomy or
percutaneous nephrostomy is indicated.

34. b) Posterior urethral valve (PUV)
It is the most frequent
cause of distal urinary
tract obstruction. The
valves are found usually
at the point of junction
of posterior urethra with
anterior urethra.
34

35. 35

36. CLINICAL MANIFESTATION
• dribbling of urine
• abnormal urine stream
• palpable bladder
• recurrent urinary tract infections
• vomiting
• failure to thrive
• pulmonary hypoplasia.
• Poor urinary stream
• Voiding dysfunction.
• Urosepsis.
36

37. DIAGNOSIS
 US suggestive at < 24 wks gestation
 MCU
 USG
 Endoscopy
37

38. MANAGEMENT
• It could be done by urinary catheterization
management is by transurethral
of valvular leaflet by balloon
• Defenitive
destruction
catheter.
• In some cases temporary urinary diversion is
done.
NURSING MANAGEMENT
• correction of electrolytes.
• Treatment of sepsis.
• Resp.distress
• Temporary relieve of pressure 38

39. c) Exstrophy of
bladder
39
In this the lower portion of
abdominal
bladder are missing, so that
wall and the anterior wall of the
the
bladder is everted through the
opening and may found on the
lower abdomen just above the
symphysis pubis, with
continuou
s
passage
outside. It occurs
as
of urine to
a result
of
altered, not arrested
embryogenesis.

40. INCIDEN
CE:
-It is the most common congenital anomaly
of lower urinary and genital tracts.
-It occurs in 1 in 30,000 to 40,000 live
births.
-it occurs frequently in males than in
females.
40

41. CLINICAL
MANIFESTATION:
41
• This condition is diagnosed
on inspection at birth.
-Urinary dribbling through defect
-skin excoriation
-infection & ulceration of bladder
mucosa
-ambigous genetalia
-wadling unsteady gait
-UTI
-Growth failure

42. DIAGNOSIS
- physical examination
-cystoscopy
-X-ray
-USG
-IVP
-urodynamic testing
42

43. MANAGEME
NT:
-surgical closure of bladder within 48
hours
-urinary diversion
-complete correction in stages
by reconstruction
-orthopedic surgery in case
of musculoskeletal
problems
43

44. NURSING
MANAGEMENT:
Supporting nursing care is important before and
after reconstructive surgery to prevent
complications.
• Pre-operative care:-
-Protection of bladder area from infections
and
trauma
-avoid irritating clothing over exposed bladder
-position by back or side
-humidifying with wet gauze
-Preparation of parents and child for surgery
• Post-operative care:-
-close monitoring of child’s condition
-special attention to urinary catheter, drainage

45. The urachus is a remnant of allantois, a
channel between the bladder and the
umbilicus (belly button) where urine initially
drains in the fetus during the 1st trimester of
pregnancy. The channel of the urachus
usually seals off and obliterates around the
12thweek of gestation
and all that is left
is a small fibrous cord
between the bladder
and umbilicus called
the median umbilical ligament.
45

46. 46

47. A patent urachus occurs when the
urachus did not seal off and there is a
connection between the bladder and the
umbilicus. A patent urachus can cause
varying amounts of clear urine to leak at
the umbilicus.
If the urachussss remains open all the
way to the bladder, there is the danger
that bacteria will enter the bladder
through the open tube and cause infection.
For this reason, the patent urachus of the
infant must be removed
47

48. A surgical incision is made in
the baby's abdomen and the
patent urachus is removed,
then the opening to the
bladder is closed.
48

49. Pelvi-ureteric junction stenosis
It is the narrowing of the
ureter at the junction
between the ureter and renal
pelvis of the kidney. It
produces blockage of urine
drainage from the kidney
(hour glass appearance).
49

50. It produces increased backpressure
on the kidney and can cause impaired
kidney function and ultimately long
term potential damage to the kidney
itself. It is found as a cause of
hydronephrosis and it can be
associated with ectopic or horse shoe
kidney.
50

51. INCIDENCE
Ureteropelvic junction stenosis and obstruction is the
most common cause of kidney blockage or
obstruction in children.
It is the most common site of obstruction in the upper
urinary tract
It occurs nearly 1 in 500 to 1:1250 live births.
51

52. ETIOLOGY
The two main causes of PUJ obstruction
are:
intrinsic muscular defect causing impaired
peristalsis and urine drainage
extrinsic obstruction caused by an aberrant
or accessory vascular stalk leading to the
lower pole of the kidney and crossing
anteriorly to the PUJ or upper ureter.
52

53. CLINICAL MANIFESTATIONS
recurrent renal colic
o flank or abdominal pain
o nausea
o vomiting
flank mass without symptoms
often associated with UTI
upper abdominal pain
53

54. DIAGNOSIS
Prenatal ultrasonography
USG
IVP
Renal scan
Renal function test
54

55. MANAGEMENT
Pyloplasty is indicated to remove
obstruction and to avoid complications.
The indications for conservative or surgical
therapy of PUJ obstruction are still
developing. PUJ obstruction by crossing
renal vessels is essential in choosing the
appropriate surgical approach.
55

56. Epispadiasis
56
It is the congenital abnormal urethral
opening on the upper surface (dorsum)
of the penis. Urethra is displaced dorsally
due to the abnormal development of the
infraumbilical wall and upper wall of the
urethra. It is associated with extrophy of
bladder and ambiguous genetalia.The
corresponding defect in females
is a fissure in the upper wall of the
urethra and is quite rare.

57. TYPES:
In male child
Anterior with normal
continence
Posterior epispadiasis
Male infants have
short and broad penis
with dorsal curvature.
In female child
Bifid clitoris with no
incontinence of urine
Subsymphyseal with
incontinence of urine
A cleft extends along
the roof or entire
urethra, involving the
bladder neck.
57

58. DIAGNOSIS
diagnosed at birth itself
IVP
MCU
vesicourethral reflux
bladder capacity
58

59. MANAGEMENT
59
Surgical correction
 1st stage - it is done about 1.5 to 2 years of age for penile
lengthening, elongation of urethral strip and chordee
correction.
2n
d
stage – it is done atleast 6 months after 1st stage
urethral reconstruction
 3rd stage – it is done about 3 - 4 years of age for bladder
neck reconstruction and correction of VUR. Cytoplastycan
be done to enhance the bladder capacity after 2 – 3 years
of 3rd stage operation.
Supportive nursing care should emphasize on prevention of
infection.

60. Hypospadia
sis
Hypospadiasis is a congenital defect,
primarily of males, in which the urethra
opens on the underside (ventrum) of the
penis. The corresponding defect in
females is an opening of the urethra into
the vagina and is rare. It may be found in
females as urethral opening in the vagina
with dribbling of urine.
60

61. INCIDEN
CE
• It is a commonest malformation in a
male child occurs 1-3
• Occurs in 1-3 males per 1000 live births
• Close relatives of the patients are most
likely to have compared to other
population
61

62. TYP
ES
62
Anterior
-65-70%
glandular or
coronal or on
distal penile shaft.
Middle
-10-15%
-May be found as -Penile shaft
hypospadiasis
Posterior
-20%
-May be found on
proximal penile
shaft or as
penoscrotal,
scrotal or perineal
type

63. DIAGNOS
IS:
• Mostly observed at birth
• observe for any abnormal voiding
pattern
• observe for inability of the boy to stand
to urinate, he must sit to void.
63

64. MANAGMEN
T:
64
-surgical reconstruction to obtain straight
penis at erection, to form urethral meatus
at the tip of glans penis.
-meatotomy is done at any age after birth.
-chordee correction and advancement of
prepuce can be done at 2 – 3 years of
age.
-urethroplasty is done 3 – 4 months
after chordee correction.
(Surgical correction should be completed
before admission to school.)

65. SURGICAL
COMPLICATIONS
65
Surgical complication rates depend on
the chosen procedure, and include
urethrocutaneous fistula, meatal
stenosis, urethral strictures, urethral
diverticula, complete breakdown, skin
necrosis, residual or recurrent curvature
and hypospadiac cripple.

66. Phimos
is
Phimosis refers to the narrow opening
of the prepuse that prevents it being
drawn back over the glans penis. It also
can be acquired by the inflammation of
glans or prepuse.
The
phimosi
s
term may also
refer inwomen,
whereby
to
clitora
l the
clitora
l
hood cannot be retracted, limiting
exposure of the glans clitoridis.
66

67. TYP
ES
Different authors calssify it
differently
• Pathological
• Physiological
• Physical
67

68. ETIOLO
GY
68
• balanitis (inflammation of the glans penis)
• Preputial stenosis or narrowness that
prevents retraction, by fusion of the foreskin
with the glans penis in children
• unusual masturbation practices
• secondary to chronic inflammation
• repeated catheterization
• forcible foreskin retraction
• Untreated diabetics due to the presence of
glucose in their urine giving rise to infection in
the foreskin

69. CLINICAL
MANIFESTATIONS
69
• inability to retract the foreskin during routine
cleaning or bathing
• ballooning of the prepuce during urination
• painful erections
• Hematuria
• recurrent urinary tract infections
• weakened urinary stream
• Physical Phimosis, the foreskin cannot be retracted
proximally over the glans penis.
• Physiologic phimosis, the preputial orifice is
unscarred and healthy appearing.
• Pathologic phimosis, a contracted white fibrous ring
may be visible around the preputial orifice

70. MANAGEME
NT:
• Phimosis in infancy needs to be treated only if it
is causing obvious problems such as urinary
discomfort or obstruction. If phimosis in older
children or adults is not causing acute and
severe
problems, nonsurgical measures may be
effective.
1.Non surgical methods include:
• Steroid therapy
• Manual stretching
70

71. 2.Surgical methods
It range from the complete removal of the
foreskin to more minor operations to relieve
foreskin tightness:
• Circumcision
• Dorsal slit (superincision)
• Ventral slit (subterincision)
• Preputioplasty
71

72. PROGNO
SIS
72
The most acute complication is
paraphimosis. In this condition, the glans
is swollen and painful, and the foreskin is
immobilized by the swelling in a partially
retracted position. The proximal penis is
flaccid.

73. Paraphimo
sis
It may develop in phimotic child. It is
an
uncommo
n
the
foreski
n
medical condition
where becomes
glans penis, and cannot be
reduced
trapped behind the
(that
is, pulled back to its normal flaccid position
covering the glans penis).
It is the retraction of a phimotic
foreskin, behind coronal sulcus forming a
tight constricting ring around the glans.
The foreskin is retracted behind the glans
penis and cannot be replaced to its

74. CLINICAL
MANIFESTATIONS
• painful, swollen glans penis in the
uncircumcised or partially circumcised
patient
• irritability
• Flaccidity of the penile shaft proximal to
the area of paraphimosis is seen
• Erythematous and edematous glans
• The glans penis is initially its normal pink
hue and soft to palpation. As necrosis
develops, the color changes to blue or
and the glans becomes firm to 74

75. ETIOLO
GY
75
The foreskin may be retracted during
penile examination, penile cleaning,
urethral catheterization, or cystoscopy; if
the foreskin is left retracted for a long
period, some of the foreskin tissue may
become edematous (swollen with fluid),
which makes subsequent reduction of the
foreskin difficult.

76. PREVENTI
ON
76
• Paraphimosis can be avoided by bringing
the foreskin back into its reduced position
after retraction is no longer necessary
• Phimosis is a risk factor for paraphimosis;
treat pathologic phimosis via long-term
stretching or elective surgical techniques

77. MANAGEME
NT
• Manual manipulation of the swollen foreskin
tissue
This involves compressing the glans and moving
the foreskin back to its normal position, perhaps
with the aid of a lubricant, cold compression,
and local anesthesia as necessary.
• Dorsal slit
• Circumcision
• The Dundee technique
77

78. Prune belly syndrome
( Eagle-Barrett syndrome, Triad syndrome)
It is a rare, genetic birth defect characterized by a triad ofsymptoms.
1.Deficiency or absence of anterior abdominalwall
musculature.
2.Bilateral cryptorchidism
3.Ureter, bladder,& urethral abnormalities(
megacystis, Megaureter, 2°dysplasia)
78

79. Other names for the syndrome include Abdominal
Muscle Deficiency Syndrome, Congenital Absence of
the Abdominal Muscles, Eagle-Barrett
syndrome, Obrinsky Syndrome, Frohlich
Syndrome, or TriadSyndrome
79

80. INCIDEN
CE
80
About 1in 40,000 births
About 97% of those affected are male

81. SYMPTO
MS
A partial or complete lack of abdominalmuscles.
There may be wrinkly folds of skin coveringthe
abdomen.
Undescended testicles in males
Urinary tract abnormality such asunusually
large ureters, distended bladder, accumulation and
backflow of urine from the bladder to the uretersand
the kidneys
Frequent urinary tract infections due to the inability to
properly expel urine.
Later in life, a common symptom is post-ejaculatory
discomfort. Most likely a bladder spasm, it lastsabout
two hours. 81

82. DIAGNO
SIS
82
Via ultrasound while a child is stillin-utero.
An abnormally large abdominal cavity resembling that
of an obese person is the key indicator, as the
abdomen swells with the pressure of accumulated
urine.
In young children, frequent urinary tract infections
Blood tests to check kidneyfunction
Voiding cystourethrogram
Orthopedic evaluation

83. TREATME
NT
The type of treatment depends on the severity of the
symptoms.
Vesicostomy
83

84. COMPLICATIONS
distending and enlarging of internal organs such as
the bladder and intestines
84
Surgery is often required but will not return the organs
to a normal size.
Also many complications can come from
enlarged/malformed kidneys
Musculoskeletal abnormalities include pectus
excavatum, scoliosis, and congenital dislocations
including the hip.