27. Congenital anomalies of the urinary tract and kidneys. Urinary tract infections. Urolithiasis.

Question 1

what causes congenital anomalies to the urinary tract and kidneys ?

Answer 1

exposure to ACE and ARB during pregnancy

True unilateral renal agenesis - aused by a failure of the ureteral bud to communicate with metanephric blastema in the first few weeks of gestation

mcdk - due to failure of union of the ureteric bud with the renal mesenchyme resulting in a non functioning kidney that is replaced by large, non communicating cysts of varying sizes with no renal cortex and atretic ureter. By definition, therefore, it can only be unilateral in a surviving infant
Twice as common in males

Question 2

what re the clinical manifestations of congenital anomalies to the urinary tract and kidneys ?

Answer 2

asymptomatic mostly

hydronephrosis

recurrent UTI in less than 24 months

Question 3

what are the antenatal congenital anomalies ?

Answer 3

Renal tract dilatation which may be of the renal pelvis and/or calyces/ hydronephrosis/ and / or ureter
= detection does not necesserily indicate the presence of obstruction in the affected kidney

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bladder diverticulosis ,thick walled , poor emptying

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Absent kidney - renal agenesis

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cystic kidney

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duplex kidneys
In both cases the kidney is usually larger than normal

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renal hypoplasia - reduced ne=umber of nephrons

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renal dysplasia abnormal development of kidney that results in non functional kidney with abnormal features - cysts, increased amount of connective tissue)
=obstructive cystic dysplasia
=medullary sponge kidney

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anomalies of kidney migration

1) horseshoe kidney - fusion of the left and right inferior poles
2) renal dystopia and renal ectopia - displacement of kidney within the retroperitoneum
3) crossed dystopia - displacement of the kidneyy - located on the same side of the spine
4) malrotationn - torsion of the kidney

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Pelvi-ureteric junction obstruction

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Megaureter describes an abnormally wide ureter

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POSTERIOR URETHRAL VALVES

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if all of these are unilateral usually asymptomatic
if bilateral - renal insufficiency and potter sequence

Question 4

what are the different classification for duplex kidneys ?

Answer 4

complete duplication - kidney has 2 separate pelvicalyceal systems + 2 ureters that enter the bladder at different points

leads to complications - no kidney function in one moiety

the end of the ureter can prolapse into the bladder - obstruction by ureterocele
- prenatal hydronephrosis
postnatal UTI

vesicoureteral reflex - because the valves have not been made properly

ureteral strictures

hydronephrosis

UTI

ureter may bypass the external sphincter and insert directly in the vagina, resulting in incontinence

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incomplete duplication -the kidney has two collecting systems, the ureters joining as oneresulting in a single osmium in the bladder

or blind ureter

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in both cases can occur :

ectopic ureter - ureter sis located caudal to the normal insertion site of the bladder - prenatal hydronephrosis
postnatal ITI

uteropelvic junction obstruction

may present as kidney of different sizes

Question 5

what causes horseshoe kidney ?

Answer 5

• usually in trisomy - 13 , 12 , turner syndrome

Question 6

what is the symptom of horseshoe kidney ?

Answer 6

usually asymptomatic

or

UTI,
haematuria,
abdominal pain are common presenting features

ureteropelvic junction obstruction due to abnormal path of the ureter - which can lead to renal calculi symptoms

UTI secondary to VUR

renal cortical scarring from VUR or obstruction

Increased risk of renal cancer -Wilms tumor

Question 7

how can we diagnose urterocele ?

Answer 7

MICTURATING CYSTOURETHROGRAM

equires cathetirization of the bladder and radiation dose is relatively

Question 8

what are the characteristics of ureteropelvic obstruction

Answer 8

40 percent bilateral

More commn in boys

Question 9

what are the clinical manifestation ureteropelvic obstruction ?

Answer 9

newborns and infants
Palpable upper abdominal mass
Failure to thrive
Recurrent pyelonephritis

Children and adults
Flank pain or upper abdominal pain that may be triggered or worsened during states of increased diuresis (e.g., after caffeine or alcohol consumption).

UTI, Recurrent pyelonephritis

a palpeble flank mass, or rupture following minor trauma

Nausea/vomiting

Hematuria

Question 10

diagnosis of uretropelvic obstruction

Answer 10

congenital ureteropelvic junction obstruction are diagnosed hydronephrosis on prenatal ultrasound.

PUJO is more likely where the antenatal hydronephrosis is > 20 mm

dynamic renography
MAG3 renal radionucleotide scan - to determine split renal function
or DTPA

IV pyelogram : excludes vesicoureteral reflux and assesses ureteral patency
used in in adults and older children sometimes

Question 11

what is the treatment of uretoropelvic obstruction ?

Answer 11

Surgery: symptomatic patients or those with > 40% loss of renal function

Anderson-Hynes pyeloplasty: open or laparoscopic resection of the obstructed segment and anastomosis of the ureter to the remaining renal pelvis

Question 12

what are the characteristics of megaurter ?

Answer 12

defined as ureteral dilation > 7 mm

more common in boys;

 More often involves the left ureter;

 25% of cases are bilateral;

Question 13

what is the classification of megaureter ?

Answer 13

Primary megaureter congenital :

1) Primary obstructed megaureter
Congenital developmental defect of the muscular layer of the terminal ureter
Distal aperistaltic segment of ureter causing functional obstruction
Increased intraureteral pressure in dilation

2) Primary refluxing megaureter: dilation of the ureter secondary to primary vesicoureteral reflux (VUR)

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Secondary obstructed megaureter
Bladder outlet obstruction 
High intracystic pressure
Functional obstruction of the vesicoureteral junction (VUJ)
Urine can not pass into the bladder
Ureteral dilation 
Secondary refluxing megaureter : bladder outlet obstruction with ureteral dilation caused by secondary vesicoureteral reflux

Question 14

what is the clinical manifestation of megaureter

Answer 14

present in infancy, urinary tract infection

hydronephrosis

abdominal pain

uremia - anorexia, nausea, vomiting, pruritus, pericarditis, pleuritis, peripheral neuropathy, and CNS abnormalities (confusion, lethargy, seizures, somnolence, coma), and an increased risk of infection and bleeding

 Renal calculi can form within the dilated system causing pain and haematuria

Question 15

what is the diagnosis of megaureter?

Answer 15

US >7mm

Voiding cystourethrography (VCUG): to identify retrograde reflux of urine into the ureters

Radionuclide renal scanning : to identify obstruction and evaluate renal function

Question 16

what are the characteristic of posterior urethras valves ?

Answer 16

occurring exclusively in male infants

Question 17

what is the clinical manifestation of posterior uretheral valves ?

Answer 17

obstruct the membranous and prostatic urethra

with severe obstruction “Potter sequence”

Abdominal distension causing bladder distension

may result in VUR, - hydronephrosis,

or calyceal rrupture causing a urinoma and renal dysplasia

Late manifestations:
Difficulty voiding, poor urinary stream
UTIs → urosepsis
Diurnal enuresis
Failure to thrive

effect on renal function is very variable and related to the degree of renal dysplasia which occurs secondary to the obstruction or may be part of the abnormality itself

Question 18

what is the diagnosis of PUV?

Answer 18

majority of cases are diagnosed as a result of antenatal US scaning which may show the presence of oligohydramnions with bilateral hydronephrosis and hydroureters, bladder wall thikening and posterior urethral dilatation

Diagnosis by
Voiding cystourethrogram (diagnostic study of choice) demonstrates
Dilation/elongation of the posterior urethra during voiding
Signs of vesicoureteral reflux (if present)

Question 19

what is the treatment of PUV ?

Answer 19

temporary insertion of urinary catheter and correction of electrolyte imbalance

First-line: primary valve ablation
Performed during cystoscopy

Second-line: vesicostomy
A surgical procedure in which a connection is formed between the bladder and the outside of the lower abdominal wall to allow for the drainage of urine

Also indicated in patients with functional bladder outlet obstruction (e.g., neurogenic bladder)

Renal transplantation may become necessary during the course of disease.

Fetal vesicoamniotic shunting is associated with procedure-related risks without evidence of long-term benefits for renal function

Question 20

what is the complication of PUV ?

Answer 20

 Long term complications of posterior urethral valves is chronic renal failure.

Question 21

what causes vesicourteral reflux ?

Answer 21

primary
Short intramural ureter → vesicoureteric junction (VUJ) fails to close completely during bladder contraction

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secondary

1) Bladder outlet obstruction

high pressure within the bladder → reflux of urine through the VUJ

Anatomic: posterior urethral valves ; urethral meatal stenosis

Functional: bladder and bowel dysfunction ; neurogenic bladder

Cystitis

2) Congenital anomalies of the ureter
Ureteral duplication 
Ectopic ureter
Ureterocele
Iatrogenic

Question 22

what are the clinical manifestation of vesicoureteralreflux ?

Answer 22

Neonates: irritability, fever, and listlessness

Older children: urinary urgency, frequency, incontinence, and dysuria associated with fever

hypertension

recurrent UTI
pyelonephritic infection can result in renal injury or scarring - extensive renal scarring impairs renal function and can result in renin- mediated hypertension, renal insufficiency or end- stage renal disease

Reflux nephropathy once accounted for as much as 15-20% of end- stage renal disease in children and young adults - HYPERTENSION , kidney failure , uraemia

Flank or abdominal pain before or during voiding

Question 23

what is the diagnosis of vesicourteral reflux ?

Answer 23

Urinalysis and urine culture: indicated in all children with hydronephrosis to rule out infection

Renal function tests: serum creatinine, urea, and electrolytes - Uremia may be present in bilateral VUR because of renal parenchymal scarring

US - hydronephrosis and dilated ureter

contrast voiding cysturethehogram - Retrograde reflux of the contrast into the ureters during micturition is diagnostic of VUR.
gold standard investigation to detect and grade VUR and PUV/ posteroir urethral valve

Reflux severity is graded

DMSA renal scan - assessment of cortical tissue , renal function and scarring

MGA3 scan ( Isotope injected with furosemide) - detects VUR especially caused by obstruction (ndicated by the isotope not passing beyond a certain point) , measures renal function- llows measurement of glomerular filtration rate

Question 24

what is the grading system in vesicoureteral reflux ?

Answer 24

grade 1 - no reflux

grade 2 - reflux up to renal pelvis , no ureteral dilation

grade 3 - reflux to renal pelvis
mild dilation of ureter
blunting of calyces

grade 4 - reflux to renal pelvis
gross dilation of ureter
moderate ureteral tortuosity

grade 5 - gross dilation of the ureter , pelvis , calyces
significant ureteral tortuisity
loss of papillary impressions

Question 25

what is the treatment for vesicoureteral reflex ?

Answer 25

conservative
for grades 1-3 in children less than 5 years

children >3 months - trimethoprim-sulfamethoxazole, - co trimoxazole
nitrofurantoin

<2 months - amoxicillin

correction of voiding dysfunction - voiding of every 3 hours , prevention of cnstipation

mild reflux resolves spontaneously

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surgical

grade 4 and higher

bilateral grade 3 VUR especially children over 6 years

subureteric transurethral injection - Cystoscopy-guided injection of dextranomer/hyaluronic acid below the mucosa of the ureterovesical junction keeps the intravesical ureter in place, alters its angle, and, thereby, corrects the VUR.

Surgery: ureteral reimplantation

Question 26

what is the diagnosis of congenital anomalies of the urinary tract and kidneys ?

Answer 26

antenatal

High resolution, 2- dimentional US allows detailed assesment of the kidneys and urinary tract from the 2nd trimester of pregnancy

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antenatal history is very important - Amniotic fluid volume (low with there is low urine output)

alpha feta protein

when the abnormality was first detected and if it progressed through pregnancy

maternal drug history

any miscarriages for genetic conditions

maternal diabetes - associated with MCDK ( feat multi cystic dysplastic kidneys)

fetal distress

umbilical cord - single umbilical artery has links to congenial urinary anomalies such as aplasia , hypoplasia , entropy of bladder
or Vesicoureteral reflux

birth weight - if low associated with low nephron numbers

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intravenous urogram

and now MRI

Question 27

what is beckwith wiedmann syndrome ?

Answer 27

predisposition to tumor development
- wilms tumor , hepatoblastoma , neuroblastoma

macrosomia 
omphalocele 
macroglossia
enlarged organs generally 
hemihypertrophy 
GENITOURINARY abnormalitys 
midface hypoplasia 
intellectual disability 

diagnosis - decrease blood glucose
increase serum inulin and IGF-2

Question 28

what is the cause of multi cystic dysplastic kidneys ?

Answer 28

onset birth to childhood - sporadic abnormality with the embryonic development for the ureter and nephrons

non hereditary

Question 29

clinical features of multi cystic dysplastic kidneys ?

Answer 29

large cyst may impair urinary output due to constriction ofurinary tract

usually UNILATERAL cysts

Involution may occur in utero or postnatally, usually by 2 years of age

incase bilateral which is very rare - POTTER SEQUENCE, or spontaneous abortion

renal insufficiency rare

extrarenal- congenital heart defects
oesophageal and intestinal atresia
spinal anomalies

Question 30

diagnosis of multi cystic dysplastic kidneys ?

Answer 30

US , DMSA

Question 31

treatment for multi cystic dysplastic kidneys ?

Answer 31

surveillance
most regress spontaneously

nephrectomy - in severe cases such as hypertension

Question 32

what are the different types of polycystic kidneys ?

Answer 32

ADPKD - usually occurs after 30 years of age
but may also develop during childhood
mutation in chromosome 16 -PKD1
PKD2 - chromosome 4

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ARPKD
mutation in chromosome 6
symptom onset in infancy childhood

Question 33

what are the clinical manifestation of ARPKD?

Answer 33

renal manifestation - protruding abdomen - bilateral renal enalrgmnet or hepatomegaly

chronic renal failure - heamtureia , proteinurea , oligourea

severe in utero renal impairment - oligourea - oligohydroaminos - POTTER SEQUENCE:
craniofacial abnormalities (retrognathia , low set of ears and flat nose) , clubbed feet,
and pulmonary hypoplasia
potter sequence condition is deadly due to pulmonary hypoplasia

hypertension - early MANIFESTATION
NOT RESPONSIVE TO MONOTHERAPY
= complicated by cardiac hypertrophy , heart failure , cerebrospinal vascular disease

congenital hepatic and portal FIBROSIS - hepatic failure and portal hypertension
Eosophageal varices

Cholangitis may present with recurrent septiciaemia without the classical features of Charcot,s triad: fever, hepatic pain, jaundice

Question 34

what is the clinical manifestation of adpkd

Answer 34

GROSS HEMATUREA
FLANK PAIN
RECURRENT UTI
nephrolithaisis
kidneys palpable and enlarged during abdominal exam
signs of chronic kidney disease - hypertension

extra renal
multiple benign hepatic cysts
cyst in pancreases , spleen , ovary testicales

cerebral berry aneurysm - 8 percent
- subarachnoid hemorrhage

cardiovascular - arterial hypertension (through increased renin production)
heart valve defects - particularly mitral valve prolapse and left ventricular hypertrophy

colon diverticulosis , abdominal and inguinal hernia

Question 35

what is the diagnosis of polycystic kidneys disease ?

Answer 35

ARPKD

US

enalrgened kinder with MULTIPLE CYSTS BILATERALY OF EQUAL SIZE (varying size in adults)
hepatic cysts
dilated biliary ducts
hepatic and portal fibrosis !

genetic testing

creating clearance

urinalysis

renal biopsy - only when things are not conclusive
cystic dilation of collecting ducts - other nephron segments are spared

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ADPKD

in adults enlargened kidneys with multiple cysts of varying size
in children -evidence of cysts in combination of family history positive of ADPKD
hepatic , pancreatic and splenic cyst visible

renal biopsy - cystic dilation of the entire kidney tubular system
cysts in organs such as liver and pancreas , left ventricular hypertrophy

Question 36

what is the treatment for PKD?

Answer 36

ACE-inhibitors (ACEIs) or angiotensin receptor blockers (ARBs) - slows proteinurea
and esrd progression

(tolvaptan - ndicated in patients with rapidly progressing ADPKD )

Early treatment of urinary tract infections (to prevent renal cyst infection)

High fluid intake to prevent kidney stone formation and to possibly slow cyst progression

Avoid nephrotoxic substances (e.g., NSAIDs, sulfonamide antibiotics, aminoglycosides)
Avoid ADH (vasopressin may stimulate cyst growth)

In severe cases: e.g., ESRD
Hemodialysis or peritoneal dialysis

Kidney transplantation is the only curative option

Portosystemic shunting or liver transplantation may be required in ARPKD patients with severe hepatic involvement.

treatment of biliary dysfunction focuses on (1) malabsorption of nutrients and fat-soluble vitamins and (2) the risk for ascending cholangitis, and includes administration of synthetic bile acids and early recognition and treatment of ascending cholangitis.

Esophageal varices should be treated with endoscopic banding or sclerotherapy as indicated.
Portosystemic shunting may be necessary to treat progressive portal hypertension

With severe portal hypertension and splenic dysfunction, immunization against encapsulated bacteria (pneumococcus; H influenza type B; meningococcus) is indicated