Congenital abnormalities of kidney and urinary system

1. CONGENITAL ABNORMALITIES OF
KIDNEY AND URINARY SYSTEM
(CAKUT)
SUNIL KUMAR.P
Haematology& Transfusion medicine
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4. • The urinary system consist of the …..
• 1.Kidneys
• 2.Ureters
• 3.Uriary bladder
• 4.Urethra
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5. Urinary system…..
• Upper Part :
• Located within the ABD and consist of the
• 1.Kidneys
• 2.A large portions of the ureters
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6. Urinary system…..
• Lower Part:
• Constitutes the Pelvic organs includes
• 1.Ureters
• 2.Urinay bladder
• 3.Urethra
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7. Functions of Urinary System…
• Filtering and eliminating wastes from the body
• Also Maintains the…….
• Homeostasis of water,
• Ions
• pH
• BP
• Production of hormones….EPO, Renin,
Calcitriol
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8. • The ureters, urinary bladder, and urethra
together form the urinary tract…….. which
acts as a plumbing system to drain urine from
the kidneys ,store, it and then release it during
urination.
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9. KIDNEYS
• Kidneys are pair of bean-
shaped excretory organs
situated along the Posterior
wall of the abdominal
cavity.
• The Lt.Kidney is located
slightly higher than right
kidney because the right
side of the liver is much
larger than the left side.
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11. Functions of Kidneys….
• The kidneys filter metabolic wastes , excess
ions and chemicals.
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12. Ureters
• The ureters are a pair of
tubes that carry urine from
the kidneys to the urinary
bladder.
• The ureters about 10-12
inches long and run on the
left and right sides of the
body parallel to the
vertebral Coolum.
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13. • The ends of the ureters
extend slightly in to the
urinary bladder and are
sealed at the point of entry
to the bladder by
ureterovesical valves.
• The valves prevent urine
from flowing back towards
the kidney.
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14. Urinary Bladder….
• The urinary bladder is a sac like hollow organ
used for the storage of urine.
• The urinary bladder is located along the
body’s midline at the inferior end of the
pelvis.
• Urine entering the urinary bladder from the
ureters slowly fills the hollow space of the
bladder and stretches it’s elastic walls.
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15. • The walls of the bladder
allow it to stretch to hold
any where from 600-800 ml
of urine
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16. urethra
• The urethra is the tube through which urine
passes from the bladder to the exterior of the
body.
• The female urethra is around 2inches long and
ends inferior to the clitoris and superior to the
vaginal opening.
• In males the urethra is around 8-10 inches
long and ends at the tip of the penis.
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17. Abnormalities during development:
• 1.Dysgenesis of the Kidney
• a- Renal Agenesis(absent Kidney)
• b- Renal Hypoplasia
• c-Renal dysplasia
• D-Cystic dysplasia
• E-Solitary kidney disease
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18. 2.Abnormalities in shape & position
• a- Ectopic Kidney
• b- Fusion Anomalies
• - horseshoe Kidney
• - crossed fused Ectopia
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19. 3. Abnormalities of the collecting
system:
• Hydronephrosis
• Bladder extrophy
• PUV
• Patent Urachus
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20. 4.Abnormalities in Bladder
• 1.Ureterocele
• 2.Vesicoureteral reflex (VUR)
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21. 5.Abnormalities in Urethra
• PUV ( Posterior Urethral Valves)
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22. 1.Dysgenesis of the Kidney
• a- Renal Agenesis
• b- Renal Hypoplasia
• c-Renal dysplasia
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23. 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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24. ETIOLOGY
• 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.
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26. 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.
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28. CLINICAL MANIFESTATIONS
• 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
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29. 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.
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30. • 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.
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31. CLINICAL
MANIFESTATIONS
• 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
problems (undeveloped lungs, sharp nose, clubbed
feet)
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32. DIAGNOSIS
• In a fetal ultrasound there will be a lack of
amniotic fluid. It is detected by US at 12th wk
of gestation.
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33. TREATMENT
• 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.
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34. 2.Long-term treatment
• Protect the remaining kidney from infection or
injury.
• Periodic examinations of the kidney and
prompt treatment of any urinary tract
infection is required.
• Counselling to avoid contact sports where the
kidney could be injured.
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35. 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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36. c)Renal dysplasia
• Multicystic dysplastic kidney results 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.
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37. TYPES
TYPES
• Bilateral
• Unilateral
• INCIDENCE
• the disease is found to be
bilateral in 19% to 34% of
cases
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38. CLINICAL MANIFESTATIONS
• Those with bilateral disease often have other
severe 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)
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39. DIAGNOSIS
• Antenatal ultrasound about 28 weeks, with a
range of 21 to 35 weeks.
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