CONGENITAL ABNORMALITIES
Kidney and Urinary Tract Company
LOGO
Abnormalities during
development:
1. Dysgenesis of the Kidney
a. Renal Agenesis(absent Kidney)
b. Renal Hypoplasia
c. Renal dysplasia
2. Abnormalities in shape & position:
d. Ectopic Kidney
e. Fusion Anomalies
Horseshoe Kidney
Crossed Fused Ectopia
3. Abnormalities of the collecting system:
f. Hydronephrosis
g. PUV
h. Bladder extrophy
i. Patent Urachus
j. Pelvi-Ureteric Junction Stenosis
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1. Dysgenesis of the Kidney
a. Renal Agenesis
b. Renal Hypoplasia
c. Renal dysplasia
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a. RENAL AGENESIS
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
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Renal Agenesis: Risk Factors and
Recurrence
Family History:
No family history in most cases.
20-36% of cases have a genetic cause.
Recurrence Risk:
General Population: 3% risk in future pregnancies.
If one parent has unilateral renal agenesis: Risk increases
to about 15%.
Associated Conditions:
Uncontrolled diabetes in pregnancy may lead to a baby
being born with bilateral renal agenesis.
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Unilateral Renal Agenesis
• Common: Usually no major health issues if the other kidney is healthy.
• Associated Risks: Increased incidence of Müllerian duct abnormalities (can cause
infertility).
• Precautions: Caution advised for contact sports.
• Clinical Manifestations:
Often asymptomatic
Premature birth
Low-set ears (due to concurrent kidney and ear development)
Potential ureter abnormalities.
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Bilateral Renal Agenesis
• Overview: Rare and serious failure of both kidneys to develop in a fetus,
linked to Potter’s Syndrome.
• Complications: Causes oligohydramnios, leading to further
malformations.
• Genetic Links: Often associated with genetic disorders; more common in
males.
• Prognosis: Most affected infants do not survive beyond four hours.
• Clinical Manifestations:
Dry, loose skin; wide-set eyes; sharp nose
Low-set ears with reduced cartilage
Underdeveloped lungs; absent bladder
Esophageal and anal atresia
Unusual genitals
Many features caused by lack of amniotic fluid
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Diagnosis and Management
• Diagnosis:
Detected by ultrasound at 12 weeks (lack of amniotic fluid).
• Treatment:
Short-Term: Bilateral renal agenesis is fatal. If one kidney is present,
it can support normal development.
Long-Term: Protect the remaining kidney from infection or injury;
regular check-ups; avoid contact sports.
• Nursing Management:
Prevent kidney infection (low-dose antibiotics).
Monitor and manage blood pressure.
Dialysis or transplant if the remaining kidney fails.
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Renal Hypoplasia And Dysplasia
• Renal Hypoplasia:
Appears as one small kidney and one larger.
Caused by partial kidney development.
Associated with small arteries and hypertension, often requiring
nephrectomy.
• Renal Dysplasia:
Multicystic dysplastic kidney with irregular cysts and no function.
Most common renal cystic disease and frequent cause of abdominal mass in
infants.
• Types:
Bilateral
Unilateral
• Incidence:
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Bilateral in 19%-34% of cases.
Clinical Manifestations & Diagnosis
• Clinical Manifestations:
Often associated with severe deformities.
Classic abnormal facies and oligohydramnios seen in Potter's syndrome.
Linked to contralateral ureteropelvic junction obstruction and
hypertension.
Rare risk of malignant transformation to Wilm's tumor.
• Diagnosis:
Detected via antenatal ultrasound between 21-35 weeks, typically around
28 weeks.
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Management
• Not treatable : periodic observation ensures healthy kidney function and checks for
complications.
• Nephrectomy : if renal hypertension or malignancy occurs.
• Conservative Management:
Cysts < 5 cm are monitored annually for BP, urinary protein, and cyst involution.
Follow-up at 2 and 5 years if normal.
• Nephrectomy Indications:
No involution by 2 years.
Hypertension.
Infections.
Complications
Malignancy (Wilm's tumor, adenocarcinoma).
Hypertension, resolved by nephrectomy.
Risks of cyst infection, bleeding, or rupture.
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2.Abnormalities in shape &
position:
a- Ectopic Kidney
b- Fusion Anomalies
horseshoe Kidney
crossed fused Ectopia
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2.Abnormalities in shape & position:
a. Ectopic Kidney:
- Kidney located outside its usual position, either failing to
ascend from the pelvis or ascending into the thorax.
b. Fusion Anomalies:
- Horseshoe Kidney:
- Lower poles of kidneys fused in the midline.
- Increased risk of Wilms tumor.
- Diagnosed via IVP; surgery if pyelonephritis occurs.
- Crossed Fused Ectopia:
- Both kidneys on the same side with separate ureters.
- Ureter of the crossed kidney travels back to the bladder.
- Caused by abnormal development during weeks 4-8 of gestation
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Ectopic Kidney Horseshoe Kidney
Crossed Fused Ectopia
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3. Abnormalities of the
collecting system:
a. Hydronephrosis
b. PUV
c. Bladder extrophy
d. Patent Urachus
e. Pelvi-Ureteric Junction Stenosis
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a. Hydronephrosis
Overview:
Dilation of the renal pelvis, either unilateral or bilateral, due to urine flow obstruction or reflux.
Etiology:
Ureteropelvic junction obstruction
Vesicoureteral reflux
Megaureter
Ureterocele
Posterior urethral valves (PUV)
Clinical Manifestations:
Urinary infections, large abdominal mass
Abdominal pain, failure to thrive, anemia
Hypertension, hematuria, renal failure
Diagnosis:
Antenatal US: At 18-20 weeks for severity, unilateral vs. bilateral, renal parenchyma, bladder, and
amniotic fluid.
Postnatal: Physical exam (abdominal mass, palpable bladder), USG, IVP, MCU, diuretic isotope
renography
Management:
Surgical intervention (e.g., pyeloplasty).
Nephrectomy or percutaneous nephrostomy in severe cases.
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b. Posterior urethral valve (PUV)
• Overview:
Most common cause of distal urinary tract obstruction, typically at the junction of the posterior and anterior
urethra.
• Clinical Manifestations:
Dribbling, abnormal urine stream
Palpable bladder, recurrent UTIs
Vomiting, failure to thrive
Pulmonary hypoplasia, poor urinary stream
Voiding dysfunction, urosepsis
• Diagnosis:
US: Suggestive at < 24 weeks gestation
MCU, USG, Endoscopy
• Management:
Immediate: Urinary catheterization
Definitive: Transurethral destruction of valve with balloon catheter
Temporary: Urinary diversion if needed
• Nursing Management:
Correct electrolytes, treat sepsis
Manage respiratory distress and relieve pressure
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c. Exstrophy of bladder
• Overview:
Missing lower abdominal wall and anterior bladder wall; bladder everted through an opening,
resulting in continuous urine passage.
• Incidence:
Most common congenital anomaly of the lower urinary and genital tracts.
Occurs in 1 in 30,000 to 40,000 live births, more common in males.
• Clinical Manifestations:
Diagnosed at birth by inspection
Urinary dribbling, skin excoriation
Infection, ulceration, ambiguous genitalia
Waddling gait, UTI, growth failure
• Diagnosis:
Physical exam, cystoscopy, X-ray, USG, IVP, urodynamic testing
• Management:
Surgical closure within 48 hours
Urinary diversion, staged reconstruction, orthopedic surgery if needed
• Nursing Management:
Pre-operative: Protect bladder area, avoid irritating clothing, position comfortably, humidify with wet
gauze, prepare for surgery
Post-operative: Monitor condition, manage urinary catheter, educate parents on care and
complications
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d. Patent urachus
Overview:
The urachus is a fetal channel between the bladder and
umbilicus, usually closing by the 12th week of gestation.
A patent urachus occurs when this channel remains open,
causing clear urine leakage at the umbilicus and potential
bladder infection.
Treatment:
Surgical removal of the patent urachus and closure of the bladder
opening.
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d. Patent urachus
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e. Pelvi-Ureteric Junction Stenosis
• Overview:
Narrowing at the junction between the ureter and renal pelvis, causing urine blockage and
potential kidney damage.
Often associated with hydronephrosis, ectopic, or horseshoe kidney.
• Incidence:
Most common cause of kidney obstruction in children.
Occurs in 1 in 500 to 1:1250 live births.
• Etiology:
Intrinsic: Muscular defect impairing urine drainage.
Extrinsic: Obstruction by an aberrant vascular stalk.
• Clinical Manifestations:
Recurrent renal colic, flank/abdominal pain, nausea, vomiting, UTI, and sometimes an
asymptomatic flank mass.
• Diagnosis:
Prenatal ultrasound, USG, IVP, renal scan, and renal function tests.
• Management:
Pyeloplasty to remove obstruction and prevent complications, with surgical approach depending
on crossing renal vessels.
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e. Pelvi-Ureteric Junction Stenosis
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