الرحيم الرحمن الله الرحيم بسم الرحمن الله بسمUrologyUrology

Congenital anomalies of the Congenital anomalies of the upper urinary tractupper urinary tract

سعيد. هادي نعمان سعيد. د هادي نعمان دالجراحة - فرع مساعد الجراحة - أستاذ فرع مساعد أستاذ

M.B.Ch.B., M.R.C.S., Ph.D.(Uro), M.B.Ch.B., M.R.C.S., Ph.D.(Uro), C.A.B.(Uro), F.J.M.C.(Uro). C.A.B.(Uro), F.J.M.C.(Uro).

Congenital anomalies of the upper Congenital anomalies of the upper urinary tracturinary tract

Anomalies of numberAnomalies of number    -Agenesis Unilateral-Agenesis Unilateral Bilateral Bilateral -Supernumerary kidney -Supernumerary kidney    Anomalies of volume and Anomalies of volume and structurestructure   Hypoplasia Hypoplasia   Multicystic kidney Multicystic kidney   Polycystic kidney Polycystic kidney   

Infantile Infantile AdultAdultOther cystic disease Other cystic disease Medullary cystic diseaseMedullary cystic disease     

       Anomalies of Anomalies of

ascentascent    Simple ectopiaSimple ectopia   Cephalad ectopia Cephalad ectopia Thoracic kidney Thoracic kidney  

Anomalies of form and Anomalies of form and fusionfusion

  Crossed ectopia with and Crossed ectopia with and without fusionwithout fusion   

Unilateral fused kidney Unilateral fused kidney (inferior ectopia) (inferior ectopia)

Sigmoid or S-shaped Sigmoid or S-shaped kidney kidney

Lump kidney Lump kidney L-shaped kidney L-shaped kidney Disc kidney Disc kidney Unilateral fused kidney Unilateral fused kidney

(superior ectopia) (superior ectopia) Horseshoe kidney Horseshoe kidney

  

    

Anomalies of rotationAnomalies of rotation   Incomplete Incomplete   Excessive Excessive   Reverse Reverse

Anomalies of the collecting Anomalies of the collecting systemsystem       Calyx and infundibulumCalyx and infundibulum   

Calyceal diverticulum Calyceal diverticulum Hydrocalyx Hydrocalyx Megacalycosis Megacalycosis Unipapillary kidney Unipapillary kidney Extrarenal calyces Extrarenal calyces Anomalous calyx Anomalous calyx

(pseudotumor of the (pseudotumor of the kidney) kidney)

Infundibulopelvic Infundibulopelvic dysgenesis dysgenesis

PelvisPelvisExtrarenal pelvis Extrarenal pelvis Bifid pelvis Bifid pelvis

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

Congenital anomalies of the upper urinary tractCongenital anomalies of the upper urinary tract

In summery comprise a diversity of In summery comprise a diversity of abnormalities, ranging from: complete absence abnormalities, ranging from: complete absence kidney, supernumerary Kidney kidney, supernumerary Kidney

aberrant location, orientation, and shape of aberrant location, orientation, and shape of the kidney ,aberrations of the collecting the kidney ,aberrations of the collecting

system , &blood supply.system , &blood supply.

Unilateral Renal Agenesis (URA)Unilateral Renal Agenesis (URA)

IncidenceIncidence : : 1:1: 1400 1400 birthsbirths Found Found

accidentally, more frequently on the accidentally, more frequently on the leftleft side side.. EmbryologyEmbryology :Complete absence of a ureteric bud or :Complete absence of a ureteric bud or

aborted ureteral development prevents maturation of aborted ureteral development prevents maturation of the metanephric blastema into adult kidney tissue. the metanephric blastema into adult kidney tissue.

**Ipsilateral adrenal agenesis is rarely encountered Ipsilateral adrenal agenesis is rarely encountered with URAwith URA

*Other Genital anomalies are much more *Other Genital anomalies are much more frequently observedfrequently observed

AsymptomaticAsymptomaticDiagnosisDiagnosis : U/S or IVU,CT scan: absent kidney on that side : U/S or IVU,CT scan: absent kidney on that side

+ compensatory hypertrophy of the contralateral kidney+ compensatory hypertrophy of the contralateral kidney

Treatment: Treatment: no specific treatmentno specific treatmentPrognosis:Prognosis: no evidence that they have an increased

susceptibility to other diseasesBilateral agenesis: rare, incompatible with lifeBilateral agenesis: rare, incompatible with life

Supernumerary KidneySupernumerary Kidney truly an accessory truly an accessory organorgan

IncidenceIncidence very rare very rare

SymptomsSymptoms It may not produce symptoms until early adulthood, if at It may not produce symptoms until early adulthood, if at all. all.

DiagnosisDiagnosis accidentally by IVU or abdominal U/S accidentally by IVU or abdominal U/S

TreatmentTreatment: no treatment: no treatment

ANOMALIES OF ASCENTANOMALIES OF ASCENT

Simple Renal EctopiaSimple Renal Ectopia When the mature kidney fails to reach its normal location When the mature kidney fails to reach its normal location

in the "renal fossa “in the "renal fossa “

IncidenceIncidence The incidence is The incidence is 1 in 1 in 10001000

Associated Associated AnomaliesAnomalies

The incidence of The incidence of contralateral agenesiscontralateral agenesis appears to be appears to be rather high rather high

HydronephrosisHydronephrosis secondary to obstruction or reflux may be secondary to obstruction or reflux may be seen in as many as seen in as many as 25%25% of none contralateral kidneys of none contralateral kidneys

Clinical featuresClinical features Most ectopic kidneys are asymptomaticMost ectopic kidneys are asymptomatic

Diagnosis : Diagnosis : U/S, IVU, CT scanU/S, IVU, CT scan

Prognosis:Prognosis: The ectopic kidney is no more susceptible to The ectopic kidney is no more susceptible to disease than the normally positioned kidney except for disease than the normally positioned kidney except for the development of the development of hydronephrosis or hydronephrosis or urinary calculus formation urinary calculus formation

Cephalad Renal EctopiaCephalad Renal Ectopia

Thoracic KidneyThoracic Kidney   

   

ANOMALIES OF FORM AND FUSIONANOMALIES OF FORM AND FUSION

Crossed Renal Ectopia With and Without Crossed Renal Ectopia With and Without FusionFusion

Horseshoe Horseshoe KidneyKidney found in 1:1000 necropsies an is commoner in men.found in 1:1000 necropsies an is commoner in men.

probably the most common of all renal fusion anomaliesprobably the most common of all renal fusion anomalies

The anomaly consists of two distinct renal The anomaly consists of two distinct renal masses lying vertically on either side of masses lying vertically on either side of the midline and connected at the midline and connected at their respective lower poles their respective lower poles by a parenchymatous or by a parenchymatous or fibrous fibrous isthmusisthmus that that crosses the midplane of the body.crosses the midplane of the body.

Fusion of the renal masses early in embryonic life, so its Fusion of the renal masses early in embryonic life, so its ascent will be impeded by inferior mesenteric artery.ascent will be impeded by inferior mesenteric artery.

The kidneys are low located, mal rotated and pelves lie The kidneys are low located, mal rotated and pelves lie anteriorlyanteriorly

SymptomsSymptoms When present, they are related to complications like When present, they are related to complications like

hydronephrosis, infection, or calculus formationhydronephrosis, infection, or calculus formation

DiagnosisDiagnosis ultrasound, IVU, CT ultrasound, IVU, CT scanscan

Treatment:Treatment:

Medical: Medical: pain relief and to control infectionpain relief and to control infection

Surgical: Surgical: stone removal, PUJ stenosis correction stone removal, PUJ stenosis correction and isthmus division in cases of operations on the and isthmus division in cases of operations on the aorta aorta

PrognosisPrognosis usually they have normal usually they have normal life.life.

Cystic disease of the Cystic disease of the kidneyskidneys

Polycystic kidney diseasePolycystic kidney disease : : The kidney is one of the most common sites in The kidney is one of the most common sites in

the body for cysts the body for cysts

Two types:Two types: AUTOSOMAL AUTOSOMAL RECESSIVERECESSIVE

("INFANTILE") POLYCYSTIC KIDNEY ("INFANTILE") POLYCYSTIC KIDNEY DISEASEDISEASE

AUTOSOMAL AUTOSOMAL DOMINANTDOMINANT ("ADULT") ("ADULT") POLYCYSTIC KIDNEY DISEASEPOLYCYSTIC KIDNEY DISEASE

Congenital cystic kidney (polycystic kidney) Congenital cystic kidney (polycystic kidney) (Adult cystic renal disease)(Adult cystic renal disease)

Autosomal Autosomal dominantdominant, transmitted by , transmitted by either parents, either parents, 50%50% of offspring of offspring affected.affected.

Both kidneys replaced by large no. of Both kidneys replaced by large no. of cysts of variable size which make the cysts of variable size which make the kidney of large size.kidney of large size.

The cysts contain The cysts contain clear fluidclear fluid but but sometimes sometimes bloodblood..

The cysts progressively increase in size The cysts progressively increase in size causing pressure atrophy of the renal causing pressure atrophy of the renal parenchyma and pressing the ureter.parenchyma and pressing the ureter.

15%15% associated with cystic disease of associated with cystic disease of liver, lung, pancreas or spleenliver, lung, pancreas or spleen..

Etiology & PathogenesisEtiology & Pathogenesis

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

Adult polycystic renal diseaseAdult polycystic renal disease

Clinical pictures:Clinical pictures:

Rarely gives clinical manifestation before 4o Rarely gives clinical manifestation before 4o yearsyears

Asymptomatic: Asymptomatic: diagnosed accidentally.diagnosed accidentally. Pain:Pain: due to pedicle stretching, stone, ureteric due to pedicle stretching, stone, ureteric

obstruction, bleeding inside cyst or infection.obstruction, bleeding inside cyst or infection. Hematuria:Hematuria: cyst distention and rupture to the cyst distention and rupture to the

collecting system.collecting system. Infection:Infection: renal or cyst infection causes fever, renal or cyst infection causes fever,

rigor and loin pain.rigor and loin pain. Hypertension:Hypertension: in 70%, Unknown cause. in 70%, Unknown cause. Renal impairment:Renal impairment: anorexia, headache, nausea, anorexia, headache, nausea,

vomiting, drowsiness and coma.vomiting, drowsiness and coma. Renal enlargementRenal enlargement:: large knobby palpable large knobby palpable

kidneykidney

DiagnosisDiagnosis:: Family history of polycystic disease.Family history of polycystic disease.

U/S, IVU, CT scan, MRIU/S, IVU, CT scan, MRI

Treatment:Treatment:

Medical:Medical: ((Expectant)Expectant) To control infection, hypertension, pain To control infection, hypertension, pain

and anemia.and anemia. Renal impairment: by low protein diet Renal impairment: by low protein diet

and dialysis.and dialysis.Surgical:Surgical: Rovsing’s operation (deroofing) for Rovsing’s operation (deroofing) for

large cysts causing symptoms or large cysts causing symptoms or obstruction.obstruction.

Stone removal.Stone removal. Renal failure:Renal failure: Renal transplantation.Renal transplantation.

Infantile polycystic disease of the kidneyInfantile polycystic disease of the kidney

Rare autosomal recessive, Rare autosomal recessive, incompatible with life. incompatible with life.

Both kidneys are large in size and Both kidneys are large in size and replaced by large number of cysts replaced by large number of cysts which may obstruct labor.which may obstruct labor.

The condition is due to failure of The condition is due to failure of ureteric bud to fuse with ureteric bud to fuse with metanephrose. metanephrose.

Simple (solitary) renal cystSimple (solitary) renal cyst

Common condition. Common condition. single or multiple.single or multiple. uni or bilateral.uni or bilateral. Congenital or acquired. Congenital or acquired. Usually asymptomatic. Usually asymptomatic.

- - In 10% symptomaticIn 10% symptomatic: pain, : pain, heaviness, infection, bleeding inside heaviness, infection, bleeding inside the cyst or pressure effect on the the cyst or pressure effect on the ureter causing hydronephrosis. ureter causing hydronephrosis.

DiagnosisDiagnosis Examination:Examination: usually –ve, big cyst cause painless loin mass, usually –ve, big cyst cause painless loin mass,

& painful if complicated by bleeding or infection& painful if complicated by bleeding or infection U/S:U/S: echo free area (cystic lesion). echo free area (cystic lesion). KUB:KUB: soft tissue shadow. soft tissue shadow. IVU:IVU: stretched calyx, filling defect or hydronephrosis. stretched calyx, filling defect or hydronephrosis. CT scan &MRI:CT scan &MRI: are diagnostic. are diagnostic.

Treatment:Treatment: usually no treatment needed usually no treatment needed

Symptomatic cases:Symptomatic cases: Aspiration and injection of sclerosing agent.Aspiration and injection of sclerosing agent.Rovsing’s operation (deroofing).Rovsing’s operation (deroofing).Partial or total nephrectomy in destructed Partial or total nephrectomy in destructed

kidney.kidney.

N.B.N.B. Malignant cyst: radical nephrectomy. Malignant cyst: radical nephrectomy.

N.B.N.B. Hydatid cyst aspiration is contraindicated Hydatid cyst aspiration is contraindicated because of anaphylaxis and dissemination.because of anaphylaxis and dissemination.

Congenital Anomalies of Renal pelvis & UreterCongenital Anomalies of Renal pelvis & Ureter

Duplication of Renal PelvisDuplication of Renal Pelvis

IncidenceIncidence: 4 %: 4 %

More common on More common on leftleft side side Renorenal refluxRenorenal reflux may occur from one pelvis to the other may occur from one pelvis to the other

Duplication of the ureterDuplication of the ureter

IncidenceIncidence : 3 % : 3 %

Usually the ureters fuse & have common orifice in the Usually the ureters fuse & have common orifice in the bladder although they may open independently in which bladder although they may open independently in which case the ureters cross each other so that the ureter that case the ureters cross each other so that the ureter that drain the upper pelvis open below (more distally) in the drain the upper pelvis open below (more distally) in the bladder & vise versa.bladder & vise versa.

Clinical featuresClinical features : usually asymptomatic : usually asymptomatic

More prone to infections, calculus disease & More prone to infections, calculus disease & hydronephrosishydronephrosis

Treatment Treatment :expectant:expectant

Bifid renal pelvis

i

Ureteral duplication: partial and complete Ureteral duplication: partial and complete

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

Complete duplicationComplete duplication::

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

Ectopic UretersEctopic Ureters 80%80% are associated with a duplicated collecting system are associated with a duplicated collecting system In the In the malemale, , the posterior urethrathe posterior urethra is the most common is the most common

site of termination, also to semenal vesiclesite of termination, also to semenal vesicle In the In the femalefemale, the , the urethra and vestibuleurethra and vestibule are the most are the most

common sitescommon sites Clinical features: Clinical features: According to the site of orificeAccording to the site of orificeIn In femalesfemales: continuous dribbling: continuous dribblingIn In malesmales: urinary tract infection: urinary tract infectionDiagnosisDiagnosis IVU, U/S, CT scan, cystoscopy IVU, U/S, CT scan, cystoscopyTreatment: Treatment: Ureteric reimplantation or implantation of one Ureteric reimplantation or implantation of one

ureter to the other ureter is usedureter to the other ureter is usedEctopic ureters may drain renal moieties (either an upper Ectopic ureters may drain renal moieties (either an upper

pole or a single-system kidney) that have minimal pole or a single-system kidney) that have minimal function. Therefore, upper pole partial nephrectomy (or function. Therefore, upper pole partial nephrectomy (or nephrectomy of single system) is sometimes nephrectomy of single system) is sometimes recommendedrecommended

Complete ureteral duplication and ectopic ureteric orifice.

Congenital Congenital MegaureterMegaureter

Grossly dilated ureterGrossly dilated ureter

Unilateral or bilateralUnilateral or bilateral

More common in maleMore common in male

Clinical featuresClinical features::

Asymptomatic, pain, Asymptomatic, pain, repeated UTIsrepeated UTIs

Lower ureter might be Lower ureter might be obstructedobstructed

Sometimes associated Sometimes associated with with vesicoureteral refluxvesicoureteral reflux

DiagnosisDiagnosis : IVU : IVU

TreatmentTreatment

Infection should be Infection should be controlledcontrolledExcision of the lower Excision of the lower stenotic stenotic segment (if present) segment (if present)Ureteric tapering & Ureteric tapering & reimplantation inreimplantation into the bladderto the bladderNephroureterectomy for Nephroureterectomy for non functioning kidney non functioning kidney

PostcavalPostcaval ( (Retrocaval)Retrocaval) ureter ( ureter (Preureteral Vena CavaPreureteral Vena Cava ) )

The The right ureter right ureter pass behind the inferior vena cavapass behind the inferior vena cava This might causes obstructionThis might causes obstruction Vascular abnormalityVascular abnormalityIncidence:Incidence: about 1 in 1500about 1 in 1500

Although it is congenital, Although it is congenital, most most patients present patients present at 3rd or 4th at 3rd or 4th decade.decade.

Diagnosis: Diagnosis: IVU IVU

TreatmentTreatment

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

UreterocelesUreteroceles Is due to congenital atresia of the ureteric orifice which Is due to congenital atresia of the ureteric orifice which

causes a cystic dilatation of the intramural portion of the causes a cystic dilatation of the intramural portion of the ureterureter

Women > menWomen > men

Sometimes involves with ectopic ureterSometimes involves with ectopic ureter More prone to stone disease & UTIsMore prone to stone disease & UTIsClinical FeaturesClinical Features : asymptomatic : asymptomaticRepeated UTIs, HematuriaRepeated UTIs, HematuriaDiagnosisDiagnosisIVU, cystoscopy, cystogramIVU, cystoscopy, cystogram

The ‘adder head’ on excretory urographyThe ‘adder head’ on excretory urography

is typical.is typical.TreatmentTreatment

Asymptomatic : no treatmentAsymptomatic : no treatmentCystoscopy with diathermy Cystoscopy with diathermy

cauterization of the holecauterization of the holeNephrectomy in non functioning Nephrectomy in non functioning

kidneykidneyIn complicated cases, ureteral reimplantation and vesical In complicated cases, ureteral reimplantation and vesical

reconstructionreconstruction

Cobra (Adder) head Cobra (Adder) head appearance of ureteroceleappearance of ureterocele

Ureterocele involving single system Ureterocele involving duplicated ureter

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

(stenosis)(stenosis) The most common cause of significant The most common cause of significant

dilation of the collecting system dilation of the collecting system in the fetal kidney in the fetal kidney

Boys > Girls Boys > Girls Left-sided Left-sided lesions predominatelesions predominate

15%15% bilateral bilateral

ETIOLOGYETIOLOGY IntraluminalIntraluminal : : mucosal fold mucosal fold

that causes valve like effect. that causes valve like effect. IntrinsicIntrinsic ( (intramuralintramural))

interruption in the development of interruption in the development of the circular musculature of the UPJ the circular musculature of the UPJ

ExtrinsicExtrinsic An aberrant, accessory, An aberrant, accessory, or early-branching lower-pole renal or early-branching lower-pole renal artery artery

PUJ Obstruction – gross pathologyPUJ Obstruction – gross pathology

SYMPTOMS/PRESENTATIONSYMPTOMS/PRESENTATION Most infants are asymptomatic and most children are Most infants are asymptomatic and most children are

discovered because of their symptoms discovered because of their symptoms Episodic flank or upper abdominal pain, sometimes Episodic flank or upper abdominal pain, sometimes

associated with nausea and vomitingassociated with nausea and vomiting

DIAGNOSISDIAGNOSISU/SU/S:: hydronephrosis hydronephrosis

IVUIVU:: diagnosticdiagnostic , , hydronephrosis hydronephrosis with fixed stenotic segment or with fixed stenotic segment or complete obstruction complete obstruction

CT scan: CT scan: hydronephrosis that hydronephrosis that

ends abruptly ends abruptly Magnetic Resonance ImagingMagnetic Resonance Imaging

Radionuclide Renography: Radionuclide Renography: to see to see the split function of each kidney the split function of each kidney

Pressure-Flow StudiesPressure-Flow Studies : : Whitaker test test

Treatment:Treatment:

MedicalMedical: control infection and pain.: control infection and pain.

SurgicalSurgical::

Indications for surgery:Indications for surgery:

1-progressive hydronephrosis.1-progressive hydronephrosis.

2- UTI, and symptomatic patients.2- UTI, and symptomatic patients.

3- Severe hydronephrotic non functioning 3- Severe hydronephrotic non functioning kidney.kidney.

TreatmentTreatment

SURGICAL REPAIRSURGICAL REPAIR including open surgical techniques, including open surgical techniques, laparoscopic, & endoscopic approacheslaparoscopic, & endoscopic approaches

Open & laparoscopic surgical techniquesOpen & laparoscopic surgical techniques

Anderson-Hynes dismembered Anderson-Hynes dismembered pyeloplasty:pyeloplasty: excision of the pathologic UPJ & excision of the pathologic UPJ & appropriate reanastamosis or flap technique or flap appropriate reanastamosis or flap technique or flap operation operation

Endoscopic ApproachesEndoscopic Approaches

balloon dilatation balloon dilatation

Antegrade endopyelotomyAntegrade endopyelotomy NephrectomyNephrectomy

for non functioning kidney for non functioning kidney

Bilateral Bilateral PUJOPUJO