Congenital anomalies of upper ut

Urology Congenital anomalies of the upper urinary tract
د.أشرف إبراهيم العدول
دكتوراه بورد عربي جراحه الكلى
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M.B.Ch.B., CABMS(Uro).

Congenital anomalies of the upper urinary tract

Anomalies of number -Agenesis: Unilateral
Bilateral -Supernumerary kidney Anomalies of volume and structure Hypoplasia Multicystic kidney Polycystic kidney
• Infantile
• AdultOther cystic disease
• Medullary cystic disease

Anomalies of ascent Simple ectopia Cephalad ectopia Thoracic kidney

Anomalies of form and fusion
Crossed ectopia with and without fusion
Unilateral fused kidney (inferior ectopia)
Sigmoid or S-shaped kidney
Lump kidney
L-shaped kidney
Disc kidney
Unilateral fused kidney (superior ectopia)
Horseshoe kidney

Anomalies of rotation Incomplete rotation Excessive rotation Reverse rotation

Anomalies of the collecting system Calyx and infundibulum
Calyceal diverticulum
Hydrocalyx
Megacalycosis
Unipapillary kidney
Extrarenal calyces
Anomalous calyx (pseudotumor of the kidney)
Infundibulopelvic dysgenesis


Pelvis
Extrarenal pelvis
Bifid pelvis

Anomalies of renal vasculature Aberrant, accessory, or multiple vessels Renal artery aneurysm Arteriovenous fistula

Congenital anomalies of the upper urinary tract

In summery comprise a diversity of abnormalities, ranging from:
-complete absent kidney, supernumerary Kidney
-aberrant location
-orientation
-shape of the kidney
-aberrations of the collecting system
-blood supply.

Unilateral Renal Agenesis (URA)

Incidence : 1: 1400 births Found accidentally, more frequently on the left side.
Embryology :Complete absence of a ureteric bud or aborted ureteral development prevents maturation of the metanephric blastema into adult kidney tissue.
*Ipsilateral adrenal agenesis is rarely encountered with URA
*Other Genital anomalies are much more frequently observed
clinically: Asymptomatic
Diagnosis : U/S or IVU,CT scan: absent kidney on that side + compensatory hypertrophy of the contralateral kidney
Treatment: no specific treatment
Prognosis: no evidence that they have an increased susceptibility to other diseases
Bilateral agenesis: rare, incompatible with life


Supernumerary Kidney truly an accessory organ
Incidence very rare
Symptoms It may not produce symptoms until early adulthood, if at all.
Diagnosis accidentally by IVU or abdominal U/S
Treatment: no treatment

ANOMALIES OF ASCENT

Simple Renal Ectopia
When the mature kidney fails to reach its normal location in the "renal fossa “
Incidence The incidence is 1 in 1000

Associated Anomalies

• The incidence of contralateral agenesis appears to be rather high
• Clinical features Most ectopic kidneys are asymptomatic
• Diagnosis : U/S, IVU, CT scan
• Prognosis: The ectopic kidney is no more susceptible to disease than the normally positioned kidney except for the development of hydronephrosis or urinary calculus formation
• Cephalad Renal Ectopia
• Thoracic Kidney

ANOMALIES OF FORM AND FUSION

Crossed Renal Ectopia With and Without Fusion

Horseshoe Kidney

Found in 1:1000 necropsies and is more common in men.
probably the most common of all renal fusion anomalies
The anomaly consists of two distinct renal masses lying vertically on either side of the midline and connected at their respective lower poles by a parenchymatous or fibrous isthmus that crosses the midplane of the body.
Fusion of the renal masses occurs early in embryonic life, so its ascent will be impeded by inferior mesenteric artery.
The kidneys are low located, mal rotated and pelves lie anteriorly
Symptoms
When present, they are related to complications like hydronephrosis, infection, or calculus formation

Diagnosis ultrasound, IVU, CT scan

Treatment:

Medical: pain relief and to control infection
Surgical: stone removal, PUJ stenosis correction and isthmus division in cases of operations on the aorta
Prognosis: usually they have normal life.

Cystic disease of the kidneys

• Polycystic kidney disease :
• The kidney is one of the most common sites in the body for cysts
• Two types:
• AUTOSOMAL RECESSIVE ("INFANTILE") POLYCYSTIC KIDNEY DISEASE
• AUTOSOMAL DOMINANT ("ADULT") POLYCYSTIC KIDNEY DISEASE


Congenital cystic kidney (polycystic kidney) (Adult cystic renal disease)
Autosomal dominant, transmitted by either parents, 50% of offspring's affected.
Both kidneys replaced by large number of cysts of variable size which make the kidney of large size.
The cysts contain clear fluid but sometimes blood.
The cysts progressively increase in size causing pressure atrophy of the renal parenchyma and pressing the ureter.
15% associated with cystic disease of liver, lung, pancreas or spleen.

Etiology & Pathogenesis

The cysts occur because of defects in the development of the collecting and uriniferous tubules and in the mechanism of their joining. Blind secretory tubules that are connected to functioning glomeruli become cystic.

Adult polycystic renal disease

Clinical pictures:

Rarely gives clinical manifestation before 4o years

Asymptomatic: diagnosed accidentally.

Pain: due to pedicle stretching, stone, ureteric obstruction, bleeding inside cyst or infection.
Hematuria: cyst distention and rupture to the collecting system.
Infection: renal or cyst infection causes fever, rigor and loin pain.
Hypertension: in 70%, unknown cause.
Renal impairment: anorexia, headache, nausea, vomiting, drowsiness and coma.
Renal enlargement: large knobby palpable kidney


Diagnosis: Family history of polycystic disease.

U/S, IVU, CT scan, MRI

Treatment:
Medical: (Expectant)
To control infection, hypertension, pain and anemia.
Renal impairment: by low protein diet and dialysis.
Surgical:
Rovsing’s operation (deroofing) for large cysts causing symptoms or obstruction.
Stone removal.
Renal failure: Renal transplantation.

Infantile polycystic disease of the kidney

Rare autosomal recessive, incompatible with life.
Both kidneys are large in size and replaced by large number of cysts which may obstruct labor.
The condition is due to failure of ureteric bud to fuse with metanephrose.

Simple (solitary) renal cyst

Common condition.
Single or multiple.
Uni or bilateral.
Congenital or acquired.
Usually asymptomatic. In 10% symptomatic: pain, heaviness, infection, bleeding inside the cyst or pressure effect on the ureter causing hydronephrosis.

Diagnosis

Examination: usually –ve, big cyst cause painless loin mass, & painful if complicated by bleeding or infection
U/S: echo free area (cystic lesion).
KUB: soft tissue shadow.
IVU: stretched calyx, filling defect or hydronephrosis.
CT scan &MRI: are diagnostic.

Treatment: usually no treatment needed

Symptomatic cases:
Aspiration and injection of sclerosing agent.
Rovsing’s operation (deroofing).
Partial or total nephrectomy in destructed kidney.
N.B. Malignant cyst: radical nephrectomy.
N.B. Hydatid cyst aspiration is contraindicated because of anaphylaxis and dissemination.

Congenital Anomalies of Renal pelvis & Ureter

Duplication of Renal Pelvis
Incidence: 4 %
More common on left side Renorenal reflux may occur from one pelvis to the other

Duplication of the ureter

Incidence : 3 %
Usually the ureters fuse & have common orifice in the bladder although they may open independently in which case the ureters cross each other so that the ureter that drain the upper pelvis open below (more distally) in the bladder & vise versa.
Clinical features : usually asymptomatic
More prone to infections, calculus disease & hydronephrosis

Ureteral duplication: partial and complete

Partial duplication: is more common. Two ureters draining single kidney for variable length, then unite together before entering the bladder in one ureteric orifice. Rarely the lower part is duplicated as inverted Y ureter.

Complete duplication:

Less frequent, the whole ureter is duplicated, and each one opens in separate orifice in the bladder. The ureter draining the upper part
opens more distally
in the bladder.

Treatment :expectant

Bifid renal pelvis

i

Complete ureteral duplication and ectopic ureteric orifice.

Ureteropelvic Junction (UPJ)(PUJ) Obstruction (stenosis)

The most common cause of significant dilation of the collecting system in the fetal kidney
Boys > Girls
Left-sided lesions predominate
15% bilateral


ETIOLOGY
Intraluminal : mucosal fold that causes valve like effect.
Intrinsic (intramural) interruption in the development of the circular musculature of the UPJ
Extrinsic An aberrant, accessory, or early-branching lower-pole renal artery

PUJ Obstruction – gross pathology

SYMPTOMS/PRESENTATION

Most infants are asymptomatic
Most children are discovered because of their symptoms
Episodic flank or upper abdominal pain, sometimes associated with nausea and vomiting

DIAGNOSIS

U/S: hydronephrosis


IVU: diagnostic , hydronephrosis with fixed stenotic segment or complete obstruction

CT scan: hydronephrosis that ends abruptly

Magnetic Resonance Imaging

Radionuclide Renography: to see the split function of each kidney
Pressure-Flow Studies : Whitaker test

Treatment:

Medical: control infection and pain.
Surgical:
Indications for surgery:
1-progressive hydronephrosis.
2- UTI, and symptomatic patients.
3- Severe hydronephrotic non functioning kidney.
4- Stone formation


Treatment
SURGICAL REPAIR including open surgical techniques, laparoscopic, & endoscopic approaches
Open & laparoscopic surgical techniques Anderson-Hynes dismembered pyeloplasty: excision of the pathologic UPJ & appropriate reanastamosis or flap technique or flap operation

Endoscopic Approaches

balloon dilatation
Antegrade endopyelotomy
Nephrectomy for non functioning kidney

Bilateral PUJO

Ectopic Ureters

80% are associated with a duplicated collecting system
In the male, the posterior urethra is the most common site of termination, also to semenal vesicle
In the female, the urethra and vestibule are the most common sites
Clinical features: According to the site of orifice
In females: continuous dribbling
In males: urinary tract infection
Diagnosis IVU, U/S, CT scan, cystoscopy
Treatment: Ureteric reimplantation to urinary bladder or implantation of one ureter to the other ureter is used
Ectopic ureters may drain renal moieties (either an upper pole or a single-system kidney) that have minimal function. Therefore, upper pole partial nephrectomy (or nephrectomy of single system) is sometimes recommended



Ureteroceles
Is due to congenital atresia of the ureteric orifice which causes a cystic dilatation of the intramural portion of the ureter
Women > men

Sometimes involves with ectopic ureter

More prone to stone disease & UTIs
Clinical Features : asymptomatic
Repeated UTIs, Hematuria
Diagnosis
IVU, cystoscopy, cystogram
The ‘adder head’ on excretory urography
is typical.
Treatment
Asymptomatic : no treatment
Cystoscopy with diathermy cauterization of the hole
Nephrectomy in non functioning kidney
In complicated cases, ureteral reimplantation and vesical reconstruction

Cobra (Adder) head appearance of ureterocele

Ureterocele involving single system Ureterocele involving duplicated ureter

Congenital Megaureter

Grossly dilated ureter
Unilateral or bilateral
More common in male
Clinical features:
Asymptomatic, pain, repeated UTIs
lower ureter might be obstructed
sometimes associated with vesicoureteral reflux


Diagnosis : IVU

Treatment

Infection should be controlled

Excision of the lower stenotic segment (if present)
Ureteric tapering & reimplantation in
to the bladder
Nephroureterectomy for non functioning kidney

Postcaval (Retrocaval) ureter (Preureteral Vena Cava )

The right ureter pass behind the inferior vena cava
This might causes obstruction
It is a vascular abnormality
Incidence: about 1 in 1500
Although it is congenital, most patients present at 3rd or 4th decade.
Diagnosis: IVU


Treatment
surgical correction involves ureteral division, with relocation and ureteroureteral or ureteropelvic reanastomosis, usually with excision or bypass of the retrocaval segment, which can be aperistaltic