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DHANYA K CHANDRAN
II MSc NURSING
04/04/2020
• CAKUT are a group of phenotypically diverse
structural malformations characterized by defects in
renal and urinary tract development.
• Nearly half of children who develop end-stage renal
disease (ESRD) have asymmetric, irregularly shaped
kidneys, often referred to as bilateral renal scarring
and frequently associated with lower urinary tract
anomalies, including vesicoureteral reflux (VUR).
• These cases were previously described as reflux
nephropathy or chronic pyelonephritis; but with
advances in genetics and developmental biology,
it is becoming clear that many are the result of
primary renal malformations (renal dysplasia)
often associated with congenital malformations of
the ureter, bladder, and urethra.
• The kidneys and urinary tract develop simultaneously
from the cloaca and intermediate mesoderm.
• Kidney development can be divided into three
phases; the pronephros, mesonephros, and
metanephros.
• The pronephros develops 22 days after conception
and forms a transient, rudimentary, and
nonfunctioning system that degrades by
day 28.
• It elongates caudally to meet the cloaca by day 26,
becoming the mesonephric (Wolfian) duct, which
ultimately contributes to the formation of the urinary
bladder and male genital system (epididymis and
caudal vas deferens).
• Functioning mesonephric tubules develop from the
intermediate mesoderm and start to excrete urine,
although most of these subsequently degenerate.
• By the 5th week of fetal life the ureteral bud
branches from the caudal part of the mesonephric
duct into the metanephric mesenchyme to become
the metanephros, the precursor to the adult kidney.
• This process is mediated by the GDNF/c-
RET/Wnt-11 signaling pathway, disruptions of
which can result in varying phenotypes, including
renal agenesis.
• Reciprocal induction between the ureteral bud and
the metanephric mesenchyme results in branching
morphogenesis and elongation of the ureteral bud
to form the collecting system and mesenchymal
epithelial transformation of the metanephric
mesenchyme to generate primitive nephrons.
• The metanephros starts to function 6 to 10 weeks after
fertilization, with nephrogenesis complete by 36 weeks.
• Sixty percent of nephrons are formed in the last trimester,
which has important clinical implications for preterm and
low-birth-weight infants, who have increased long-term risk
for chronic kidney disease (CKD).
• The extent to which reduced nephron number contributes to
this increased risk relative to exposure to nephrotoxic insults
and acute kidney injury as a neonate is not yet understood.
• The lower urinary tract is formed from the endodermal cloaca,
which is divided by the urorectal septum into ventral and dorsal
parts that develop into the urogenital sinus and rectum,
respectively.
• The urogenital sinus gives rise to the early bladder, the urethra
and vestibule of the vagina in females, and the posterior urethra
in males.
• Growth of the anterior abdominal wall between the allantois and
the urogenital membrane is accompanied by an increase in size
and capacity of this bladder precursor.
• The allantois remains attached to the apex of the fetal bladder and
extends into the umbilical root, although it loses its patency and
persists as the urachal remnant, the median umbilical ligament,
which connects the bladder to the umbilicus
• By the seventh week, there is a separate opening of the distal
mesonephric duct into the bladder at what will become the
vesicoureteral opening and the area known as the trigone.
• At the same time the paramesonephric (müllerian) ducts start to
regress in males and fuse in females to become the uterovaginal
cord, which opens into the urogenital sinus and will go on to
develop into the vagina.
• Familial clustering, monogenic syndromes
associated with urinary tract malformations, and
animal models suggest a strong genetic basis for
CAKUT.
• Environmental and epigenetic factors are also
thought to contribute to the pathogenesis of
CAKUT.
• Pregestational maternal diabetes mellitus has been
associated with an increased risk for kidney and urinary
tract anomalies, with hyperglycemia shown to adversely
affect nephron number.
• Transcription factors HNF1B (hepatocyte nuclear
factor 1B) and PAX2 (paired box gene 2) are estimated to
explain approximately 15% of CAKUT (both syndromic
and isolated) and are associated with cystic kidneys and
renal hypodysplasia, respectively.
• HNF1B mediates the development of the
kidneys, liver, pancreas, and urinary tract.
• Heterozygous variants can result in renal cysts
and diabetes syndrome11 but have also been
identified in a wide range of isolated CAKUT
phenotypes, including renal hypodysplasia,
cystic kidneys, single and horseshoe kidneys,
and malformations of the collecting system.
• PAX2 is expressed in the metanephros, in cell
lineages forming nephrons, and in those destined
to differentiate into the ureter, renal pelvis, and
branching collecting duct system.
• Heterozygous variants in PAX2 were first
discovered in patients with renal-coloboma
syndrome presenting with renal hypodysplasia,
optic nerve abnormalities, and hearing loss and
VUR and multicystic dysplastic kidney (MCDK)
• Teashirt 3 (Tshz3) fail to develop normal smooth
muscle in the ureter and have congenital
hydronephrosis without anatomic obstruction.
• Autosomal recessive mutations in heparanase 2
(HPSE2) have been detected in patients with
urofacial syndrome, a congenital disease
characterized by grimacing and incomplete bladder
emptying
• Administration of angiotensin-converting
enzyme (ACE) inhibitors during pregnancy in
humans can cause hypotension and anuria in the
baby with histologic features of renal tubular
dysplasia.
• CAKUT accounts for 20% to 30% of all
developmental anomalies identified in the
antenatal period and has a prevalence of 3 to
6 per 1000 births.
• CAKUT accounts for 40% to 50% of children
with CKD
• 20% to 50% of patients with a congenital
solitary kidney require RRT by the age of 30.
• Congenitally abnormal kidneys may be large or
small, cystic or irregular in outline, and absent or
misplaced.
• Enlarged kidneys resulting from congenital
problems are usually hydronephrotic or
cystic.
• Commonest congenital
anomalies as inherited
autosomal disease.
• It is an complex
syndrome,resulting from
progressive dilatation of
specific portion of the
nephron.
• Diagnosis : IVP , renal
angiography
• Irregularity of the renal outline may result
from fetal lobulation or a “dromedary
hump,” neither of which has any functional
implications.
• Much more important is the diagnosis of
renal dysplasia.
• Abnormal differentiation of renal parenchyma
with development of abnormal structures,
including primitive ducts surrounded by collars
of connective tissue, metaplastic cartilage,
variety of nonspecific malformations such as
preglomeruli of fetal type, and reduced
branching of collecting ducts with cystic
dilations and primitive tubules. Dysplastic
kidneys often contain cysts.
• Significantly reduced renal mass with either
normal or reduced (oligomeganephronia)
nephron number without evidence of
maldevelopment of parenchyma
• Reduced renal mass and nephron number
with dysplastic features. Previously thought
to be secondary to scarring from reflux or
reflux nephropathy, but now increasingly
considered to be primary dysplasia with
associated reflux.
• Severe cystic dysplasia with extremely
enlarged kidney full of cystic structures;
occurs as an isolated renal lesion in response
to ureteral atresia and urethral obstruction;
10% of patients have a family history
• Absence of the kidney or an identifiable
metanephric structure.
• 2 types Unilateral Renal Agenesis
Bilateral Renal Agenesis
Complete absence of one kidney
occurs in 1 in 500 to 1000 births.
It can be familial and is referred to
as hereditary renal aplasia by
pediatricians. It is an autosomal
dominant trait with incomplete
penetrance and variable
expression and can be associated
with bilateral renal agenesis or
severe dysplasia.
• Typically, there is no ureter, and the ipsilateral
half of the bladder trigone is missing.
• The remaining kidney is usually hypertrophic,
but it may be ectopic, malrotated, or
hydronephrotic with a megaureter.
• The more severe the dysplasia of the
remaining kidney, the earlier is the
presentation.
• The ipsilateral testis and seminal tract are usually absent, and
in 10% of cases, the adrenal gland is also missing.
• Girls can have an absent fallopian tube or ovary or
malformation of the vagina or uterus.
• Other associations include imperforate anus and
malformations of the vertebrae and cardiovascular system.
• Agenesis could result from failure in formation of the
metanephros or the ureteral bud; however, in association with
cloacal abnormalities
• Normality of the single kidney should be
confirmed by 99mTc-DMSA scintigraphy,
normal isotopic GFR, and absence of
proteinuria.
• If theremaining kidney is abnormal or GFR is
less than 30 ml/min, lifelong follow-up is
necessary.
• Ultrasound of the kidneys is recommended in
all first-degree relatives of individuals with
unilateral or bilateral renal agenesis.
• Bilateral renal agenesis is lethal. It is associated
with pulmonary hypoplasia and a characteristic
facial appearance (Potter facies) caused by
intrauterine compression, which is a
consequence of oligohydramnios.
• The prevalence is about 1 in 10,000 births, with
risk for occurrence in siblings of about 3%,
unless there is a family history of agenesis, in
which risk rises to 15% to 20%.
Renal Ectopia, Malrotation, and Crossed Fused Kidneys
• The starting position of the fetal kidney is deep in the pelvis.
• Kidneys that fail to ascend properly and therefore remain lower
than usual occur in 1 in 800 births.
• During development and ascent of the kidney, the renal pelvis
comes to face more medially. The most common anomaly is for
the pelvis to face forward.
• The more ectopic the kidney, the more severe is the rotation and
more abnormal the appearance. In more than 90% of ectopia,
there is fusion of both kidneys.
• This is best visualized on CT or MR urography
• Symptoms and complications, if any, are caused
by associated reflux or pelviureteral junction
(PUJ) obstruction.
• If both kidneys are low, they may join
at the lower pole and are usually
drained by two ureters.
• The kidneys lie lower than normal, and
further ascent is prevented by the root
of the inferior mesenteric artery.
• Horseshoe kidney occurs in 1 in 400 to
1800 births and is more common in
males (2 : 1).
• Patients present, with complications of
reflux, obstruction, or stone formation.
• Dilated calyces are usually caused
by obstruction.
• Focal dilation also can be caused
by congenital infundibular
stenosis, extrinsic compression
from vessel or tumor, stones, or
tuberculosis.
• Moreover, if the GFR is normal
and the divided function of the
kidneys is 50 : 50, surgery to
improve the anatomy should not
be attempted.
• In megacalycosis, there is bizarre dysplasia of the
calyceal system with an increase in the number of
calyces.
• There is no obstruction, and the cause is
malformation of renal papillae.
• Megacalycosis is congenital, usually unilateral,
and an incidental finding. It is much more
common in males.
• A calyceal diverticulum is a cavity peripheral to
a minor calyx that is not a closed cyst but rather
is connected to the calyx by a narrow channel
• It is usually an incidental finding and may
manifest with symptoms relating to stones or
infection within the cavity.
• Multiple calyceal clubbing and calyceal
diverticula are the characteristic features of the
renal dysplasia seen in Bardet-Biedl syndrome
(formerly known as Laurence-Moon-Biedl
syndrome).
• This autosomal recessive condition is
characterized by retinitis pigmentosa,
dysmorphic extremities (sometimes with
polydactyly), obesity, and hypogonadism.
• malformation is associated with parenchymal
dysplasia; renal failure in early adult life is
common.
• It has now been shown that Bardet-Biedl
syndrome is caused by a defect of the basal
body of ciliated cells,21 and mutations in 20
genes coding for different proteins located in
the basal body and cilia of the cell
• In children, PUJ
obstruction is one of the
most frequent causes of
obstructive uropathy.
• The condition is usually
congenital but can have
an acquired mechanical
basis caused by stenosis
or external compression
from adhesions, aberrant
lower pole vessels, or
kinking of the most
proximal ureter.
• Duplication of the ureter and
the renal pelvis is a common
anomaly, with an incidence of
about 1 in 150 births;
unilateral duplication is six
times more frequent than
bilateral.
• It is more common in girls. If
duplication has been detected
in a patient, the likelihood of
another sibling with
duplication rises to 1 in 8.
• Ectopic ureters are almost always associated
with ureteral reduplication, and 10% are
bilateral.
• The ectopic ureter comes from the upper pole
and inserts into the bladder more distally and
toward the bladder neck or opens into the
upper urethra.
• Ectopic ureters are rare in males and manifest
as UTI. Males are usually continent because the
ureter is proximal to the external sphincter.
• Isolated dilation of the ureter does not necessarily imply obstruction.
• There are three broad groups of conditions with widely dilated ureters,
as follows:
1. Obstruction of the ureter itself. This may be intrinsic
(e.g., stone) or extrinsic (e.g., retroperitoneal fibrosis); it is
not associated with reflux.
2. Bladder outflow obstruction, with secondary ureteral obstruction.
Examples include a neuropathic bladder and posterior urethral valves;
this may or may not be associated with reflux.
3. A dilated but nonobstructed ureter. This often occurs without reflux,
and there can be normal renal function; this may be caused by an
adynamic segment of the lower ureter.
• Prune-belly syndrome occurs in males and consists
of absence of the muscles of the anterior abdominal
wall, bizarre malformations of the urinary tract with
gross dilation of the bladder and ureters, and
bilateral undescended testes.18,25,26 When the
disorder is diagnosed early, renal outcome is
related to the degree of renal dysplasia.
• There are incomplete forms of prune-belly
syndrome (pseudo-prune). Rarely, a similar
megacystis or megaureter may be seen in a male
or female patient
• It is a congenital malformation
• Lower portion of the abdominal wall
and the anterior wall of the bladder
are missing so that bladder is
everted through the opening and
may found on the lower abdomen
with continuous passage of urine to
the outside.
• Male are more commonly affected
• In childhood, the most common cause of a neuropathic
bladder is myelomeningocele,
• A neuropathic bladder also may be seen without
associated neurologic or other obvious causes.
• The principal consequences are incontinence, infection,
and reflux with upper tract dilation and subsequent renal
failure.
• Early urodynamic assessment is essential.Three different
patterns of bladder behavior are seen: contractile,
intermediate, and acontractile.
• Contractile Behavior- An overactive detrusor
(hyperreflexia) can produce some bladder emptying
(incontinence). Unfortunately, 95% of patients have
sphincter dyssynergia (inability to relax the urethral
sphincter), which results in no relaxation and incomplete
emptying of the bladder.
• Intermediate Behavior- These patients have some
detrusor activity, but not sufficient to empty the bladder.
These intermediate bladders are poorly compliant, and
patients have no voluntary control of their sphincters.
Any rise in bladder pressure tends to cause
incontinence, or the high intravesical pressures lead
to renal injury.
• Acontractile Behavior- About 25% of patients have
no detrusor activity, and the bladder overflows when
it is sufficiently full. This acontractile bladder is not
usually associated with renal failure.
• Congenital bladder neck obstruction is rare
and is usually caused by a neuropathic
bladder, posterior urethral valves, or an
ectopic ureterocele.
• Posterior urethral valves are the most common cause of severe
subvesical obstruction in the male infant (but account for only
10% of neonatal hydronephrosis).
• As a result, bilateral hydronephrosis and megaureter occur.
• Obstruction is caused by a diaphragm that extends from the
floor to the roof of the urethra at the apex of the prostate.
• Valves appear as mucosal folds in the posterior urethra below
the verumontanum (an elevation in the floor of the prostatic
portion of the urethra where the seminal ducts enter)
• There is dilation of the proximal urethra and
bladder wall hypertrophy and trabeculation.
• Above the valves, the prostatic urethra
dilates, undermining the bladder neck.
• The valves obstruct flow only in one
direction, and therefore a catheter can be
passed without difficulty
• It is a rare condition in which a pocket, sac, or
pouch forms in the urethra. The urethra is a
small tube through which urine passes to exit
your body. Because this sac is in the urethra, it
can fill with urine and sometimes pus.
• Multiple open surgical and endoscopic
approaches have been described for the
treatment of urethral diverticula, including the
following : Transurethral saucerization of the
diverticulum. Marsupialization of the
diverticular sac into the vagina, excision of the
diverticulum.
• Uro facial syndrome or Ochoa
syndrome is an autosomal recessive
congenital disorder characterized by an
association of a lower urinary tract and
bowel
dysfunction with a typical
facial expression: When
attempting to smile, the patient
seems to be crying or
grimacing
• Patients present with enuresis and UTI and all the features of
a neuropathic bladder together with dilated upper tracts.
• They are at risk for renal failure. Mutations of heparanase-2
(HPSE2) and leucine-rich repeats and immunoglobulin-like
domains 2 (LRIG2) have been reported in urofacial syndrome,
and the proteins they encode are expressed in the fetal
bladder.
• It is proposed that they play an important role in the neural
control of bladder function.
• Urofacial syndrome is part of a spectrum of congenital
bladder disorders that include non-neurogenic neurogenic
bladder or Hinman syndrome.
• Congenital renal tract abnormalities may present in
one of the following five settings:
1. Antenatal diagnosis by fetal ultrasound screening
2. Failure to thrive in an infant or young child
3. Investigation of urinary tract infection (UTI)
4. An incidental finding in a child or adult
5. An adult with abnormal urinalysis, stones,
hypertension, or renal impairment
• History collection
• Physical examination
• USG- Can differentiate between it and
hydronephrosis.
• MCUG(micturating cystoerethrograme) :
contra-lateral VUR (20%).
• IVP
• Renal angiography
• Cystoscopic examination
• X-ray
• Urodynamic studies
• Renal function test
• For poly cystic kidney disease- analgesics,
except ibuprofen (Advil), which isn't
recommended since it may worsen kidney
disease, anti hypertensives, antibiotics
to treat UTIs, a low-sodium diet, diuretics to
help remove excess fluid from the body,
surgery to drain cysts and help relieve
discomfort.
• A pyeloplasty is a surgical procedure that is
indicated for a pelviureteric junction
(PUJ) obstruction.
• For Renal multicystic dysplasia- Nephrectomy
• Symptomatic treatment only for Horse shoe
kidney
• Calyceal Diverticulum- Calyceal
Diverticulectomy, percutaneous ablation
• The typical surgery for megaureters involves putting
the ureters back into the bladder ("ureteral
reimplantation") and trimming the widened ureter
("ureteral tapering"). If your child doesn't have a
urinary tract infection or decrease in kidney function,
the surgery can be delayed until he/she is 12 months
old.
• Surgical closure of the bladder within 48 hours and
urinary conversion before reconstructive surgery for
Exstrophy of bladder
• Urinary tract infection
• Glomerular hyperfiltration
• Proteinuria and progressive renal failure
• Hypertension
• Calculi
• Tubular dysfunction
• Polyuria
• Salt depletion
• Acidosis
• Bone disease- osteomalacia
• Thorough history collection and physical
examination
• Monitor vital signs, renal function, intake
and output chart
• Personal hygiene
• Catheter care
• wound dressing
• Dialysis when the solitary kidney has
ceased to function.
Congenital  anomalies of the kidney and urinary tract

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Congenital anomalies of the kidney and urinary tract

  • 1. DHANYA K CHANDRAN II MSc NURSING 04/04/2020
  • 2. • CAKUT are a group of phenotypically diverse structural malformations characterized by defects in renal and urinary tract development. • Nearly half of children who develop end-stage renal disease (ESRD) have asymmetric, irregularly shaped kidneys, often referred to as bilateral renal scarring and frequently associated with lower urinary tract anomalies, including vesicoureteral reflux (VUR).
  • 3. • These cases were previously described as reflux nephropathy or chronic pyelonephritis; but with advances in genetics and developmental biology, it is becoming clear that many are the result of primary renal malformations (renal dysplasia) often associated with congenital malformations of the ureter, bladder, and urethra.
  • 4. • The kidneys and urinary tract develop simultaneously from the cloaca and intermediate mesoderm. • Kidney development can be divided into three phases; the pronephros, mesonephros, and metanephros. • The pronephros develops 22 days after conception and forms a transient, rudimentary, and nonfunctioning system that degrades by day 28.
  • 5. • It elongates caudally to meet the cloaca by day 26, becoming the mesonephric (Wolfian) duct, which ultimately contributes to the formation of the urinary bladder and male genital system (epididymis and caudal vas deferens). • Functioning mesonephric tubules develop from the intermediate mesoderm and start to excrete urine, although most of these subsequently degenerate.
  • 6. • By the 5th week of fetal life the ureteral bud branches from the caudal part of the mesonephric duct into the metanephric mesenchyme to become the metanephros, the precursor to the adult kidney. • This process is mediated by the GDNF/c- RET/Wnt-11 signaling pathway, disruptions of which can result in varying phenotypes, including renal agenesis.
  • 7. • Reciprocal induction between the ureteral bud and the metanephric mesenchyme results in branching morphogenesis and elongation of the ureteral bud to form the collecting system and mesenchymal epithelial transformation of the metanephric mesenchyme to generate primitive nephrons.
  • 8. • The metanephros starts to function 6 to 10 weeks after fertilization, with nephrogenesis complete by 36 weeks. • Sixty percent of nephrons are formed in the last trimester, which has important clinical implications for preterm and low-birth-weight infants, who have increased long-term risk for chronic kidney disease (CKD). • The extent to which reduced nephron number contributes to this increased risk relative to exposure to nephrotoxic insults and acute kidney injury as a neonate is not yet understood.
  • 9. • The lower urinary tract is formed from the endodermal cloaca, which is divided by the urorectal septum into ventral and dorsal parts that develop into the urogenital sinus and rectum, respectively. • The urogenital sinus gives rise to the early bladder, the urethra and vestibule of the vagina in females, and the posterior urethra in males. • Growth of the anterior abdominal wall between the allantois and the urogenital membrane is accompanied by an increase in size and capacity of this bladder precursor.
  • 10. • The allantois remains attached to the apex of the fetal bladder and extends into the umbilical root, although it loses its patency and persists as the urachal remnant, the median umbilical ligament, which connects the bladder to the umbilicus • By the seventh week, there is a separate opening of the distal mesonephric duct into the bladder at what will become the vesicoureteral opening and the area known as the trigone. • At the same time the paramesonephric (müllerian) ducts start to regress in males and fuse in females to become the uterovaginal cord, which opens into the urogenital sinus and will go on to develop into the vagina.
  • 11.
  • 12. • Familial clustering, monogenic syndromes associated with urinary tract malformations, and animal models suggest a strong genetic basis for CAKUT. • Environmental and epigenetic factors are also thought to contribute to the pathogenesis of CAKUT.
  • 13. • Pregestational maternal diabetes mellitus has been associated with an increased risk for kidney and urinary tract anomalies, with hyperglycemia shown to adversely affect nephron number. • Transcription factors HNF1B (hepatocyte nuclear factor 1B) and PAX2 (paired box gene 2) are estimated to explain approximately 15% of CAKUT (both syndromic and isolated) and are associated with cystic kidneys and renal hypodysplasia, respectively.
  • 14. • HNF1B mediates the development of the kidneys, liver, pancreas, and urinary tract. • Heterozygous variants can result in renal cysts and diabetes syndrome11 but have also been identified in a wide range of isolated CAKUT phenotypes, including renal hypodysplasia, cystic kidneys, single and horseshoe kidneys, and malformations of the collecting system.
  • 15. • PAX2 is expressed in the metanephros, in cell lineages forming nephrons, and in those destined to differentiate into the ureter, renal pelvis, and branching collecting duct system. • Heterozygous variants in PAX2 were first discovered in patients with renal-coloboma syndrome presenting with renal hypodysplasia, optic nerve abnormalities, and hearing loss and
  • 16. VUR and multicystic dysplastic kidney (MCDK) • Teashirt 3 (Tshz3) fail to develop normal smooth muscle in the ureter and have congenital hydronephrosis without anatomic obstruction. • Autosomal recessive mutations in heparanase 2 (HPSE2) have been detected in patients with urofacial syndrome, a congenital disease characterized by grimacing and incomplete bladder emptying
  • 17. • Administration of angiotensin-converting enzyme (ACE) inhibitors during pregnancy in humans can cause hypotension and anuria in the baby with histologic features of renal tubular dysplasia.
  • 18. • CAKUT accounts for 20% to 30% of all developmental anomalies identified in the antenatal period and has a prevalence of 3 to 6 per 1000 births. • CAKUT accounts for 40% to 50% of children with CKD • 20% to 50% of patients with a congenital solitary kidney require RRT by the age of 30.
  • 19. • Congenitally abnormal kidneys may be large or small, cystic or irregular in outline, and absent or misplaced.
  • 20. • Enlarged kidneys resulting from congenital problems are usually hydronephrotic or cystic.
  • 21. • Commonest congenital anomalies as inherited autosomal disease. • It is an complex syndrome,resulting from progressive dilatation of specific portion of the nephron. • Diagnosis : IVP , renal angiography
  • 22. • Irregularity of the renal outline may result from fetal lobulation or a “dromedary hump,” neither of which has any functional implications. • Much more important is the diagnosis of renal dysplasia.
  • 23. • Abnormal differentiation of renal parenchyma with development of abnormal structures, including primitive ducts surrounded by collars of connective tissue, metaplastic cartilage, variety of nonspecific malformations such as preglomeruli of fetal type, and reduced branching of collecting ducts with cystic dilations and primitive tubules. Dysplastic kidneys often contain cysts.
  • 24. • Significantly reduced renal mass with either normal or reduced (oligomeganephronia) nephron number without evidence of maldevelopment of parenchyma
  • 25. • Reduced renal mass and nephron number with dysplastic features. Previously thought to be secondary to scarring from reflux or reflux nephropathy, but now increasingly considered to be primary dysplasia with associated reflux.
  • 26. • Severe cystic dysplasia with extremely enlarged kidney full of cystic structures; occurs as an isolated renal lesion in response to ureteral atresia and urethral obstruction; 10% of patients have a family history
  • 27. • Absence of the kidney or an identifiable metanephric structure. • 2 types Unilateral Renal Agenesis Bilateral Renal Agenesis
  • 28. Complete absence of one kidney occurs in 1 in 500 to 1000 births. It can be familial and is referred to as hereditary renal aplasia by pediatricians. It is an autosomal dominant trait with incomplete penetrance and variable expression and can be associated with bilateral renal agenesis or severe dysplasia.
  • 29. • Typically, there is no ureter, and the ipsilateral half of the bladder trigone is missing. • The remaining kidney is usually hypertrophic, but it may be ectopic, malrotated, or hydronephrotic with a megaureter. • The more severe the dysplasia of the remaining kidney, the earlier is the presentation.
  • 30. • The ipsilateral testis and seminal tract are usually absent, and in 10% of cases, the adrenal gland is also missing. • Girls can have an absent fallopian tube or ovary or malformation of the vagina or uterus. • Other associations include imperforate anus and malformations of the vertebrae and cardiovascular system. • Agenesis could result from failure in formation of the metanephros or the ureteral bud; however, in association with cloacal abnormalities
  • 31. • Normality of the single kidney should be confirmed by 99mTc-DMSA scintigraphy, normal isotopic GFR, and absence of proteinuria. • If theremaining kidney is abnormal or GFR is less than 30 ml/min, lifelong follow-up is necessary. • Ultrasound of the kidneys is recommended in all first-degree relatives of individuals with unilateral or bilateral renal agenesis.
  • 32. • Bilateral renal agenesis is lethal. It is associated with pulmonary hypoplasia and a characteristic facial appearance (Potter facies) caused by intrauterine compression, which is a consequence of oligohydramnios. • The prevalence is about 1 in 10,000 births, with risk for occurrence in siblings of about 3%, unless there is a family history of agenesis, in which risk rises to 15% to 20%.
  • 33. Renal Ectopia, Malrotation, and Crossed Fused Kidneys • The starting position of the fetal kidney is deep in the pelvis. • Kidneys that fail to ascend properly and therefore remain lower than usual occur in 1 in 800 births. • During development and ascent of the kidney, the renal pelvis comes to face more medially. The most common anomaly is for the pelvis to face forward. • The more ectopic the kidney, the more severe is the rotation and more abnormal the appearance. In more than 90% of ectopia, there is fusion of both kidneys.
  • 34. • This is best visualized on CT or MR urography • Symptoms and complications, if any, are caused by associated reflux or pelviureteral junction (PUJ) obstruction.
  • 35. • If both kidneys are low, they may join at the lower pole and are usually drained by two ureters. • The kidneys lie lower than normal, and further ascent is prevented by the root of the inferior mesenteric artery. • Horseshoe kidney occurs in 1 in 400 to 1800 births and is more common in males (2 : 1). • Patients present, with complications of reflux, obstruction, or stone formation.
  • 36. • Dilated calyces are usually caused by obstruction. • Focal dilation also can be caused by congenital infundibular stenosis, extrinsic compression from vessel or tumor, stones, or tuberculosis. • Moreover, if the GFR is normal and the divided function of the kidneys is 50 : 50, surgery to improve the anatomy should not be attempted.
  • 37. • In megacalycosis, there is bizarre dysplasia of the calyceal system with an increase in the number of calyces. • There is no obstruction, and the cause is malformation of renal papillae. • Megacalycosis is congenital, usually unilateral, and an incidental finding. It is much more common in males.
  • 38. • A calyceal diverticulum is a cavity peripheral to a minor calyx that is not a closed cyst but rather is connected to the calyx by a narrow channel • It is usually an incidental finding and may manifest with symptoms relating to stones or infection within the cavity.
  • 39.
  • 40. • Multiple calyceal clubbing and calyceal diverticula are the characteristic features of the renal dysplasia seen in Bardet-Biedl syndrome (formerly known as Laurence-Moon-Biedl syndrome). • This autosomal recessive condition is characterized by retinitis pigmentosa, dysmorphic extremities (sometimes with polydactyly), obesity, and hypogonadism.
  • 41. • malformation is associated with parenchymal dysplasia; renal failure in early adult life is common. • It has now been shown that Bardet-Biedl syndrome is caused by a defect of the basal body of ciliated cells,21 and mutations in 20 genes coding for different proteins located in the basal body and cilia of the cell
  • 42. • In children, PUJ obstruction is one of the most frequent causes of obstructive uropathy. • The condition is usually congenital but can have an acquired mechanical basis caused by stenosis or external compression from adhesions, aberrant lower pole vessels, or kinking of the most proximal ureter.
  • 43. • Duplication of the ureter and the renal pelvis is a common anomaly, with an incidence of about 1 in 150 births; unilateral duplication is six times more frequent than bilateral. • It is more common in girls. If duplication has been detected in a patient, the likelihood of another sibling with duplication rises to 1 in 8.
  • 44. • Ectopic ureters are almost always associated with ureteral reduplication, and 10% are bilateral. • The ectopic ureter comes from the upper pole and inserts into the bladder more distally and toward the bladder neck or opens into the upper urethra. • Ectopic ureters are rare in males and manifest as UTI. Males are usually continent because the ureter is proximal to the external sphincter.
  • 45. • Isolated dilation of the ureter does not necessarily imply obstruction. • There are three broad groups of conditions with widely dilated ureters, as follows: 1. Obstruction of the ureter itself. This may be intrinsic (e.g., stone) or extrinsic (e.g., retroperitoneal fibrosis); it is not associated with reflux. 2. Bladder outflow obstruction, with secondary ureteral obstruction. Examples include a neuropathic bladder and posterior urethral valves; this may or may not be associated with reflux. 3. A dilated but nonobstructed ureter. This often occurs without reflux, and there can be normal renal function; this may be caused by an adynamic segment of the lower ureter.
  • 46. • Prune-belly syndrome occurs in males and consists of absence of the muscles of the anterior abdominal wall, bizarre malformations of the urinary tract with gross dilation of the bladder and ureters, and bilateral undescended testes.18,25,26 When the disorder is diagnosed early, renal outcome is related to the degree of renal dysplasia. • There are incomplete forms of prune-belly syndrome (pseudo-prune). Rarely, a similar megacystis or megaureter may be seen in a male or female patient
  • 47. • It is a congenital malformation • Lower portion of the abdominal wall and the anterior wall of the bladder are missing so that bladder is everted through the opening and may found on the lower abdomen with continuous passage of urine to the outside. • Male are more commonly affected
  • 48. • In childhood, the most common cause of a neuropathic bladder is myelomeningocele, • A neuropathic bladder also may be seen without associated neurologic or other obvious causes. • The principal consequences are incontinence, infection, and reflux with upper tract dilation and subsequent renal failure. • Early urodynamic assessment is essential.Three different patterns of bladder behavior are seen: contractile, intermediate, and acontractile.
  • 49. • Contractile Behavior- An overactive detrusor (hyperreflexia) can produce some bladder emptying (incontinence). Unfortunately, 95% of patients have sphincter dyssynergia (inability to relax the urethral sphincter), which results in no relaxation and incomplete emptying of the bladder. • Intermediate Behavior- These patients have some detrusor activity, but not sufficient to empty the bladder. These intermediate bladders are poorly compliant, and patients have no voluntary control of their sphincters.
  • 50. Any rise in bladder pressure tends to cause incontinence, or the high intravesical pressures lead to renal injury. • Acontractile Behavior- About 25% of patients have no detrusor activity, and the bladder overflows when it is sufficiently full. This acontractile bladder is not usually associated with renal failure.
  • 51. • Congenital bladder neck obstruction is rare and is usually caused by a neuropathic bladder, posterior urethral valves, or an ectopic ureterocele.
  • 52. • Posterior urethral valves are the most common cause of severe subvesical obstruction in the male infant (but account for only 10% of neonatal hydronephrosis). • As a result, bilateral hydronephrosis and megaureter occur. • Obstruction is caused by a diaphragm that extends from the floor to the roof of the urethra at the apex of the prostate. • Valves appear as mucosal folds in the posterior urethra below the verumontanum (an elevation in the floor of the prostatic portion of the urethra where the seminal ducts enter)
  • 53. • There is dilation of the proximal urethra and bladder wall hypertrophy and trabeculation. • Above the valves, the prostatic urethra dilates, undermining the bladder neck. • The valves obstruct flow only in one direction, and therefore a catheter can be passed without difficulty
  • 54. • It is a rare condition in which a pocket, sac, or pouch forms in the urethra. The urethra is a small tube through which urine passes to exit your body. Because this sac is in the urethra, it can fill with urine and sometimes pus. • Multiple open surgical and endoscopic approaches have been described for the treatment of urethral diverticula, including the following : Transurethral saucerization of the diverticulum. Marsupialization of the diverticular sac into the vagina, excision of the diverticulum.
  • 55. • Uro facial syndrome or Ochoa syndrome is an autosomal recessive congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: When attempting to smile, the patient seems to be crying or grimacing
  • 56. • Patients present with enuresis and UTI and all the features of a neuropathic bladder together with dilated upper tracts. • They are at risk for renal failure. Mutations of heparanase-2 (HPSE2) and leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2) have been reported in urofacial syndrome, and the proteins they encode are expressed in the fetal bladder. • It is proposed that they play an important role in the neural control of bladder function. • Urofacial syndrome is part of a spectrum of congenital bladder disorders that include non-neurogenic neurogenic bladder or Hinman syndrome.
  • 57. • Congenital renal tract abnormalities may present in one of the following five settings: 1. Antenatal diagnosis by fetal ultrasound screening 2. Failure to thrive in an infant or young child 3. Investigation of urinary tract infection (UTI) 4. An incidental finding in a child or adult 5. An adult with abnormal urinalysis, stones, hypertension, or renal impairment
  • 58. • History collection • Physical examination • USG- Can differentiate between it and hydronephrosis. • MCUG(micturating cystoerethrograme) : contra-lateral VUR (20%).
  • 59. • IVP • Renal angiography • Cystoscopic examination • X-ray • Urodynamic studies • Renal function test
  • 60. • For poly cystic kidney disease- analgesics, except ibuprofen (Advil), which isn't recommended since it may worsen kidney disease, anti hypertensives, antibiotics to treat UTIs, a low-sodium diet, diuretics to help remove excess fluid from the body, surgery to drain cysts and help relieve discomfort.
  • 61. • A pyeloplasty is a surgical procedure that is indicated for a pelviureteric junction (PUJ) obstruction. • For Renal multicystic dysplasia- Nephrectomy • Symptomatic treatment only for Horse shoe kidney • Calyceal Diverticulum- Calyceal Diverticulectomy, percutaneous ablation
  • 62. • The typical surgery for megaureters involves putting the ureters back into the bladder ("ureteral reimplantation") and trimming the widened ureter ("ureteral tapering"). If your child doesn't have a urinary tract infection or decrease in kidney function, the surgery can be delayed until he/she is 12 months old. • Surgical closure of the bladder within 48 hours and urinary conversion before reconstructive surgery for Exstrophy of bladder
  • 63. • Urinary tract infection • Glomerular hyperfiltration • Proteinuria and progressive renal failure • Hypertension • Calculi • Tubular dysfunction • Polyuria • Salt depletion • Acidosis • Bone disease- osteomalacia
  • 64. • Thorough history collection and physical examination • Monitor vital signs, renal function, intake and output chart • Personal hygiene • Catheter care • wound dressing • Dialysis when the solitary kidney has ceased to function.