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CPR99: Congenital abnormalities of urinary tract a


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Congenital abnormality of kidney
Abnormalities in amount of renal tissue, Anomalies in shape and position, Abnormalities of differentiation
Abnormalities in amount of renal tissue
Agenesis (Failure to form), Hypoplasia (Failure to develop to normal size)
Agenesis (Failure to form)
Unilateral 1:550 (USA), Bilateral 1:4000 (USA) (Incompatible with life)
Hypoplasia (Failure to develop to normal size)
More commonly unilateral & Bilateral cases usually develop renal failure in childhood
Anomalies in shape and position
Horseshoe kidneys, Ectopic kidney (abnormal position)
Horseshoe kidneys
Fusion of lower poles (90%) or upper poles (10%) of kidneys
Ectopic kidney (abnormal position)
Just above pelvic brim or in pelvis, Normal or slightly small in size, Kinking/tortuosity of ureters may lead to obstruction --> predispose to infection
Kidneys in fetus
Urine produced by a fetus in utero is the main source of amniotic fluid, Reduction in amount of amniotic fluid: Oligohydramnios
Potter’s sequence (NOT syndrome)
Cascade of anomalies triggered by one initiating aberration
Potter’s sequence ????????
A result of significant oligohydramnios of whatever cause -> Bilateral renal agenesis, Infantile polycystic kidney disease, Chronic leakage of amniotic fluid etc.
Fetal compression by Oligohydramnios
Flattened facies, Positional abnormalities of hands and feet, Dislocation of hip, Hypoplastic lungs
Abnormalities of differentiation
Multicystic Renal Dysplasia, Polycystic kidney disease [Autosomal Recessive (Childhood)/ Autosomal Dominant (Adult)]
Multicystic renal dysplasia
Sporadic disorder, NOT hereditary, NOT pre-neoplastic
Multicystic renal dysplasia problem
Developmental abnormality of metanephric duct resulting in aberrant differentiation of metanephric blastema
renal dysplasia Pathology
Unilateral/ bilateral, whole/ part of the kidney, small/ enlarged, multiple cystic structures deforming kidney
renal dysplasia characteristics
Characteristic presence of cartilage and primitive tubules, Associated with ureteric or lower urinary tract obstructive lesion
Kidney Disease categories
Perinatal, Neonatal, infantile and juvenile subcategories
Kidney Disease problem
Can lead to early infantile death Potter’s sequence
Kidney Disease etiology
Most cases caused by mutations of PKHD1 gene, Chromosome 6p21 p23, Encodes fibrocystin
Autosomal Recessive (Childhood) Polycystic Kidney Disease pathology
Bilateral Symmetrical enlarged kidneys, shape preserved, Fusiform dilatation of collecting ducts radially arranged, Big liver (Liver abnormality: congenital
(Childhood) Polycystic Kidney Disease
Neonatal respiratory failure due to hypoplastic lungs/ Neonatal renal failure
Kidney Disease
Relatively common hereditary disease, Gene frequency about 1 in 1,000
Kidney Disease pathology
Cysts gradually develop over time -> Numerous cysts in cortex and medulla, nodular huge kidneys
Kidney Disease 2 types
PKD 1, polycystin 1 gene on chromosome 16 (Accounts for about 85% cases)/ PKD 2, polycystin 2 gene on chromosome 4 (Usually less severe than PKD1 mutations)
Kidney Disease presentation
Presenting in middle age with (Abdominal mass, Pain, Haematuria, Hypertension, Chronic renal failure)
Kidney Disease Associated features:
Berry aneurysms of cerebral arteries (->SAH),Polycystic liver, lungs, pancreas, Diverticulosis of large intestines
Kidney Disease early Dx
Ultrasound (teenage), Molecular genetic studies prenatal diagnosis is possible, usually by genetic linkage studies (Ethical issues)
Acquired cystic kidney disease
This develops in end stage renal failure when a patient has been maintained by dialysis for many years, Needs to be distinguished from APKD
Congenital abnormalities of ureter
Duplication (bifid ureter), Valve, Stricture, Abnormal course, e.g. retrocaval ureter, Ectopic opening
Congenital abnormalities of urinary bladder
Extrophy of the urinary bladder, Urachal anomalies
Extrophy of the urinary bladder
Developmental failure in anterior wall of abdomen and urinary bladder, Require surgical correction, Increased risk of adenocarcinoma
Urachal anomalies
Remains patent in part or in whole of the urachus (Normally obliterated after birth), Fistulous urinary tract (Connects bladder with umbilicus), Urachal cysts (Only central part of urachus persists, Can lead to carcinoma in future)
Congenital abnormalities of urethra
Hypospadias, Epispadias, Urethral valve
Hypospadias
Abnormal urethral opening of the ventral surface of penis
Epispadias
Abnormal urethral opening on the dorsal surface of penis, May be associated with other malformations of the urinary tract
Epispadias & hypospadias problem
Increase risk of urinary tract obstruction and ascending urinary tract infections, Affect normal ejaculation and insemination and lead to subfertility
Urethral valve
Usually in the male at the posterior urethra
Uropathy
Acute or Insidious; Partial or Complete; Unilateral or Bilateral, Can occur at any level of urinary tract from Renal pelvis to urethra
Uropathy problem
Increase chance of infection & Stone formation -> Eventually lead to permanent renal damage and impairment of renal function
Common obstructive lesions
1.In male: Prostatic hyperplasia 2.In female: Pregnancy (reversible) 3.Stones (Calculi) 4.Urothelial tumors 5.Infection or inflammation (e.g.TB) 6.Neurogenic bladder
Acute ureteric obstruction
Causing Acute renal colic -> Unrelieved obstruction always leads to permanent renal damage and impairment of renal function
Acute ureteric obstruction effect
Predisposition to infection & Causes hydronephrosis and/or hydroureter
Renal colic
Severe pain caused by acute ureteric obstruction (most common renal stone) radiating from the loin at the back to the suprapubic region
Renal stones (Calculi) location
Also known as Urolithiasis, Most commonly formed in Kidney But may form anywhere in urinary tract, can dislodge and migrate to distal part of urinary tract (e.g. Ureter) causing acute obstruction
Renal stones (Calculi) epidemiology
Men >> Women, Peak age 20-30 years old
Renal stones (Calculi) 4 types
Calcium oxalate and phosphate stones (70%), Magnesium ammonium phosphate stones ( Struvite ) (5-10%), Uric acid stones (5-10%), Cystine stones (1-2%)
Calcium oxalate and phosphate stones
Related to hypercalciuria and hypercalcaemia
Magnesium ammonium phosphate stones
Related to infections by urea splitting bacteria e.g. Proteus -> Can form large stones such as staghorn calculi
Uric acid stones
Related to hyperuricaemia , e.g. Gout
Cystine stones
Related to genetic defects of renal reabsorption of amino acids, including cystine
Bladder outflow obstruction example
Prostate hyperplasia, tumour , calculi
Bladder outflow obstruction consequence
UTI, Bladder hypertrophy trabeculation, Bladder diverticuli, BILATERAL hydroureter and hydronephrosis, Vesicoureteral reflux, AROU -> acute renal failure
Bladder outflow obstruction symptoms
LUTS (lower urinary tract symptoms), Gender neutral
LUTS
1) Weak stream 2) Hesitancy 3) Dribbling 4) Urinary frequency and nocturia (Due to incomplete emptying of bladder)
Vesicoureteral Reflux
Rise in intravesical pressure may lead to vesicoureteral reflux, Normally valve like action of intramural part of the ureter prevents reflux
Vesicoureteral Reflux severity
Severity of reflux depends on intravesical pressure and competence of valve like effect at the vesicoureteral junction (loss of angulation)
Vesicoureteral Reflux Ix
Reflux can be demonstrated and graded by a micturition or voiding cystogram with radiologic contrast filling the bladder via a bladder catheter
International Grading System of Vesicoureteral Reflux (voiding cystogram)
Grade I - V
Grade I reflux
Reflux limited to nondilated ureter
Grade II reflux
Reflux up to renal pelvis without dilatation
Grade III reflux
Mild dilatation of ureter and renal pelvis
Grade IV reflux
Moderate dilatation and/or tortuosity of ureter
Grade V reflux
Severe dilatation and tortuosity of ureter, renal pelvis and calyces
Scarring of kidney by reflux
When Sterile reflux occurs at high pressure OR Urine gets infected ( acute & chronic pyelonephritis)
Type of scarring
Mild, Severe, back-pressure, end-stage
Area of scarring
Reflux associated renal scars tend to be at the polar areas where intrarenal reflux is more prone to occur
Papillary necrosis
Complication of urinary obstruction plus infection, Usually bilateral but may be unilateral
Papillary necrosis other causes
1. DM 2. Analgesic nephropathy 3. Hemoglobinopathies , such as sickle cell anemia (These latter causes are associated with microvascular disease)
Papillary necrosis effect
1. Hematuria 2. Renal colic 3. Acute renal failure 4. Chronic renal failure 5. Predisposition to urothelial cancer