bladder gu ultrasound in first trimester › wp-content › uploads › 2017 › 11 › ...11/26/17...
Post on 06-Jun-2020
3 Views
Preview:
TRANSCRIPT
11/26/17
1
FetalRenalMalformations:TheRoleofUltrasoundinDiagnosis
&Management
AlfredAbuhamad,M.D.EasternVirginiaMedicalSchool
Outline1. RenalAnomalies
• UrinaryTractDilation• AberrantEarlyDevelopment• DefectsTerminalMaturation
GUUltrasoundinFirstTrimester
FetalBladder
4
Bladder Bladder Bladder
13 weeks 13 weeks 12 weeks
5
FetalBladder
12 weeks
FetalBladder
• Seenin88%at12weeks• Seenin92–100%at13weeks• RenalsourceofAFis>16weeks
Ultrasound Obstet Gynecol 2003; 21: 338–341 Ultrasound Obstet Gynecol 1996; 7: 95–100
11/26/17
2
7
NormalBladderLength<7mm
12 weeks
Megacystis(7-15mm)• Chromosomalanomaliesin24%• Withnormalchromosomes:
• Resolutionin90%• Renalanomaliesin10%
UltrasoundObstetGynecol2003;21:338
9
Megacystis(12mm)
Normal(6mm)
Megacystis(>15mm)
• Chromosomalanomaliesin11%• Withnormalchromosomes:
• Renalanomaliesin100%
UltrasoundObstetGynecol2003;21:338
Kidneys(FirstTrimester)
A B
Kidneys
Kidneys
13 weeks 11 weeks
Axial
11/26/17
3
13
Coronal
Kidneys
Kidneys
Adrenals
Adrenals
Most Optimal in First Trimester
FetalKidneys
• Seenin86-99%at12weeks• Seenin92–99%at13weeks
Ultrasound Obstet Gynecol 1996; 7: 95–100
FetalSex
• Inaccuratebefore12weeks• Accuracyincreaseswithadvancinggestationalage
• Greaterthan95%at>13weeks
Obstet Gynecol Surv 2009; 64: 50–57 16
Female
Male
ClassificationofRenalMalformations
Urinary Tract Dilation Aberrant Early Development Defects Terminal Maturation
UPJ
PUV
Hypoplasia Aplasia
MCDK ADPKD ARPKD
UVJ UV Reflux
Syndromes
Duplex
Urethral Atresia
• Cell biology • Genetics • Embryology
Megaureter
Fusion Disorders
Ectopic Kidney
Spectrumwithsignificantoverlap
UrinaryTracyDilation
• UreteropelvicJunctionObstruction• UreterovesicalJunctionObstruction• VesicoureteralReflyux• LowerUrinaryTractObstruction• PruneBellySyndrome
11/26/17
4
- Dilatedrenalpelvis(+/-calyces)- Nonvisibledistalureter(normal)- NormalBladder
UrinaryTractDilation Referto:UreteropelvicJunctionObstruction
• Physiologic(functional)– Maternalhormones– Overhydration
• Upperureteralstenosis• Obstructionbyanoverridingvessel
Etiology
Schematicfrom:http://www.chop.edu/conditions-diseases
Obstet Gynecol 1998;92:137–41
Increaseby2-3mm
- Obstructive- Physiologic
RenalPelvisDilationCanwedifferentiateprenatally?
• Moredilation• Calycealinvolvement• Progressiveworsening
SuggestObstructive
Transient or physiologic
58%
Ureteropelvic junction (UPJ)
obstruction 30%
Vesicoureteric reflux (VUR)
10%
Utereterovesical junction (VUJ)
obstruction 1%
Vesico-outlet obstruction
1%
UrinaryTractDilation
Whatisadilatedrenalpelvis?
11/26/17
5
Parameter Measurement Notes
Anterior-PosteriorRenalPelvicDiameter(APRPD) (mm)
Measuredontransverseimageatthemaximaldiameterofintrarenalpelvis16-27weeks ≥28weeks Postnatal
<4mm <7mm <10mm
UreteropelvicJunctionObstruction
• 1/3ofallUTD• 1in1,000-2,000livebirths• M:F2:1• 90%unilateral• 2/3involvetheleftkidney• 12%associatedwithextra-renalanomaly
Epidemiology
Schematic drawing retrieved from http://www.chop.edu/
• Massivedilationofrenalpelviswithoutdilatedcalycealsystem,implieslesserdegreeofobstruction
• Intrarenaldilationposesariskforlossoffunction
UreteropelvicJunctionObstruction UreteropelvicJunctionObstructionProgressivedilation–Poorprognosis
23 weeks 28 weeks 32 weeks
UreteropelvicJunctionObstruction
• Mildcasesalmostalwaysresolvein12-24months
• Severecaseswillshowimprovementin70-80%
J Urol 2002;168:1118 – BJU Int 2003;91(9):850 – Urology 2009;73(3):521
CanUPJOresolvespontaneously?
Schematic drawing retrieved from http://www.chop.edu/
UreteropelvicJunctionObstruction
Canwepredictneedforsurgeryonprenatalsonography?
Schematic drawing retrieved from http://www.chop.edu/
11/26/17
6
Journal of Urology 2013;190:661
• FetalUTDof18mm• NeonatalUTDof16mm
• Sensitivityof100%• Specificityof86%• (95%CI80.7–89.9)
UreteropelvicJunctionObstruction
• Whenfunctionislow,itisunlikelytoimprove
• Goalofsurgicalinterventionistopreservecurrentfunction
JUrol1999;162:1041
Iffunctionislow,cansuccessfulsurgeryimproveit?
Schematic drawing retrieved from http://www.chop.edu/
- Dilatedrenalpelvis(+/-calyces)- Dilateddistalureter- NormalBladder
UrinaryTractDilation • UreterovesicalJunctionobstruction
• Megaureter• Vesico-ureteralreflux• Duplexkidney
Etiology
Schematic drawing retrieved from http://www.chop.edu/
- Dilatedrenalpelvis(+calyces)- Dilateddistalureter- Abnormaldilatedthickenedbladder
UrinaryTractDilation LowerUrinaryTractObstruction
• Posteriorurethralvalvesin50-60%
• Urethralatresiain20-40%• Urethralstenosis• Prunebellysyndrome
• Cloacaldystrophy• Megacystis-microcolonsyndrome
Etiology
Pediatric Urology. 2014; 84 (1)185.
Schematic drawing retrieved from http://www.chop.edu/
11/26/17
7
UltrasoundFindings• Dilatedrenalpelvis• Dilatedureter• Abnormalbladder
Vesico-OutletObstructionUltrasoundFindings
• Megacystis• Thickenedbladderwall>3mm• “Keyhole”sign:dilatedposteriorurethra
• Bilateralhydronephrosisorcorticalcysts
• Oligohydramnios
FirstTrimesterVesico-OutletObstruction Vesico-OutletObstruction
• Detailedultrasound• Amniocentesis(vesicocentesis)forCGH• Assesskidneys(size,echogenicity,corticalcysts)• Evaluateurineforprognosticindices• Comprehensivecounselingofparents
PrenatalEvaluation
Vesico-OutletObstructionBladderRupture
HowGoodareweinPredictingPrognosis?
11/26/17
8
• Lookforobstructivecysticdysplasia– Small– Echogenic– Cysticchanges– Oligohydramnios
Vesico-OutletObstructionEvaluationofKidneys
PoorPrognosis
EvaluationofRenalFunction
J Pediatr Surg. 1985 Aug;20(4):376 - Pediatric Research. Nov 2012; 72(5):446 – J Urol 2004;172:852
Vesico-OutletObstruction
Prenatal Diagnosis 2007;27:900
HowGoodareweinpredictingPrognosis?
Sci Transl Med 2013;5:198.
Vesico-OutletObstruction
• Ultrasound• Urineelectrolytes
MarginallyPredictiveofPoorOutcome
Recentstudysuggestsimprovedpredictionbyusing12urinaryproteins(PUV12)
HowGoodareweinpredictingPrognosis?
Vesico-OutletObstruction
• NormalAVF• EGAatdiagnosis>24weeks
PredictiveofGoodOutcome
Lancet2013;382:1496–1506.
LUTO-TherapeuticIntervention
• Vesico-amnioticshunt• Fetalcystoscopy-Laser
11/26/17
9
HowEffectiveisShuntingasaTherapeuticIntervention?
J of Urology 2005;174:1031.
TreatmentofObstruction
Long-termOutcomesinChildrenTreatedbyPrenatalShunting
• RenalFunction:
– 45%acceptable
– 22%mildinsufficiency
– 33%dialysisand/ortransplant
Obstet Gynecol 2005;106:503
TreatmentofObstruction• Retrospectivecohortstudyof111fetuseswithobstruction• Patientsofferedfetalcystoscopy,vesico-amnioticshuntingornointervention
• Comparedtonointervention– Bothinterventionsassociatedwithstatisticallysignificantincreasedsurvival
(RR1.7-1.8,P=0.04-0.05)– Fetalcystoscopysignificantlyimproved6monthsrenalfunctionincasesof
posteriorurethralvalves(P=0.03)
Ultrasound Obstet Gynecol, 2011; 37: 696–701.
Intervention N Survivalrate
Ofsurvivors,normalrenalfunctionat6months
Fetalcystoscopy 34 44% 75%
Vesicoamnioticshunting 16 38% 60%
None 61 20% 40%
• 50fetalcystoscopies(31withPUV–1trisomy18)• Year1:
– 17/30(56.7%)survived,– 13/17(76.5%)hadnormalrenalfunction
• Year2:– 15/28(53.6%)survived,– 11/15(73.3%)hadnormalrenalfunction
Prenatal Diagnosis 2016, 36, 297–303
TreatmentofObstruction
• Vesicoamnioticshunting(VAS)andcystoscopyimprovessurvivaloverconservativemanagement
• Long-termimpactonrenalfunctionispoorwithVASandconservativemanagement
• Cystoscopyappearstoimprovelong-termrenalfunction,butthereislackofrobustdataatthisstage
Lancet2013;382:1496–1506.
11/26/17
10
AberrantEarlyDevelopment
• DuplicatedRenalCollectingSystem• RenalAplasia• RenalFusionDisorders• MulticysticDysplasticKidney
DuplicatedRenalCollectingSystem
• DuplexKidney• 2pelvicalycealsystems• UpperPole(1/3)• LowerPole(2/3)– Uncomplicated– Complicated(most)
DuplicatedRenalCollectingSystem
WhenComplicated• UpperPole– Ureteralectopia– Ureterocele
• LowerPole– VesicoureteralReflux– UreteropelvicJunctionObstruction
DuplicatedRenalCollectingSystem
UreterEctopia• Mostcommonlocationisbladderneck
• Butcanbeanywhereingenitaltract
• Degreeofectopiacorrelateswithupperpoledysplasia(obstruction)
J Urology 1997;158:1245
UltrasoundFindings
UltrasoundObstetGynecol:1996;7:174.
• Sagittallengthofkidney>95th%• “Cyst-like”structureintheupperpole
• Twoseparaterenalpelves• Ureteroceleintheurinarybladder
• Dilatedureter,usuallyfromtheupperpole
DuplicatedRenalCollectingSystem“Cyst-likeStructureinUpperPole”
11/26/17
11
DuplicatedRenalCollectingSystem“DilatedUreter”
DuplicatedRenalCollectingSystem“Ureterocele(s)inBladder”
DuplicatedRenalCollectingSystem
UltrasoundFindings
Abuhamad1996.UltrasoundObstetGynecol:7;174.
• Ureteroceleinthebladderisoftenfirstcluetodiagnosis
• Keepinmindthatureterocelescancollapsewithfullbladder
RenalAplasia,FusionandMigrationAnomalies
• RenalAgenesis– Bilateral– Unilateral
• Ectopickidney• Fusiondisorders:– Horseshoekidney– Crossedectopia
BilateralRenalAgenesis
UltrasoundFindings• Anhydramnios• Emptyrenalfossabilaterally• Bladdercannotbevisualized• Dopplershowsnorenalarteries
• Flatadrenalgland• Hypertrophiccardiomyopathy
Bilateral Renal Agenesis
13 weeks
BilateralRenalAgenesis
AmnioticFluid
11/26/17
12
FlatAdrenal
FlatAdrenal
BilateralRenalAgenesis
12 weeks 13 weeks
UnilateralRenalAgenesis
• Prevalence1in2000births• Significantassociationwithanomaliesin30%• Contralateralvesico-urinaryrefluxin20%• Lookforrenalectopiabeforefinaldiagnosis• Increaseriskforhypertensionlaterinlife
UnilateralRenalAgenesisUltrasoundFindings
UltrasoundQuarterly.2010;26(4).233
• NormalAFV• Emptyrenalfossaunilaterally• NormalBladder• Largenormalkidney• Dopplershowsnorenalarteryonmissingside
• Flatadrenalglandonmissingside
UnilateralRenalAgenesisUltrasoundFindings
EctopicKidneyEpidemiology
UltrasoundQuarterly.2010;26(4).233-240.
• 1in500-3,000livebirths• 40%ofcasesofemptyrenalfossa
• Mostcommonlocationinpelvis,abovebladder
• Couldbeanywhereinbody
PelvicKidneyUltrasoundFindings
UltrasoundQuarterly.2010;26(4).233-240.
• Unilateralemptyrenalfossa• Normalcontralateralkidney• Commonly,superiortothebladder
• Mayhaveabnormalmorphology
• Variablebloodsupply
Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html
11/26/17
13
PelvicKidney
UltrasoundFindings
74
Pelvic kidney
Normal kidney
Adrenal glands
FirstTrimesterPelvicKidney
ThoracicKidneyEctopicKidney HorseshoeKidney
Etiology• Kidneysfuseduringdevelopment• Mostcommonlythelowerpoles• Bridgingtissue=“isthmus”• Isthmusbecomestetheredbelowtheinferiormesentericartery
• Incompleteascentofkidneys
UltrasoundQuarterly.2010;26(4).233-240.Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html
HorseshoeKidneyUltrasoundFindings
• Coronalview–mostoptimalfordiagnosis
• Renaltissue(isthmus)overthespine• Multiplerenalarteries• Malrotationwithreversedlongitudinalaxisofeachkidney
J Ultrasound Med. 2000;19(1):27- UOG, 2005; 25: 554
HorseshoeKidney
11/26/17
14
Horseshoe Kidney HorseshoeKidney
FirstTrimester
Horseshoe Kidney HorseshoeKidney
14weeks
CrossedFusedRenalEctopiaEpidemiology• 1in2,000-7,000• Associatedanomalies
– Uterine– imperforateanus– skeletal
Etiology• Abnormalfusion• Ureteroffusedkidneycrosses
midline• Insertsnormallyinbladder
Ultrasound Quarterly. 2010; 26(4). 233-240. Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html
CrossedFusedRenalEctopia
UltrasoundFindings• Unilateralemptyrenalfossa• Bilobed,enlarged-appearingkidney
• Atleast2renalarteries• Norenaltissueoverspineoncoronalview
• Ectopickidneymaybecomplicatedbycysticdysplasia
Ultrasound Quarterly. 2010; 26(4). 233-240.
CrossedFusedRenalEctopiaUltrasoundFindings
MulticysticDysplasticKidney• Anabnormallyfunctioningkidney• Normalrenaltissueisreplacedbycysts• Pathogenesis:
– Atresiaoftheuterteralbud– Subsequentenlarged,non-communicatingcollectingtubulesformingcysts
Prenatal Diagn 2001; 21: pp. 924
11/26/17
15
MulticysticDysplasticKidney
Epidemiology• Unilateral:1/4000births• Bilateral:1/10,000births• M:F2 : 1• Worseinfemales• 75%Unilateral
Prenat Diagn 2001; 21: pp. 924-935 and Brown Medical School Digital Pathology, retrieved from: http://www.brown.edu/Courses/Digital_Path/systemic_path/renal/multicystic.html
MulticysticDysplasticKidney
UltrasoundFindings• Brightechogenicappearance• Canbeanysize• Multipleirregularnon-communicatinganechoiccysts
• Lackofrenalpelvis• Interveningparenchymaechogenicduetocompressionbythecysts
Prenat Diagn 2001; 21:924
MulticysticDysplasticKidneyUltrasoundFindings
• SmalltoabsentrenalarterywithabnormalDoppler
• Temporalchangeinsome• Upto35%withextrarenalanomalies• About10%aneuploidywhenassociatedwithotheranomalies
Prenat Diagn 2001; 21:924
MulticysticDysplasticKidney• Approximately25%ofcontralateralkidneysareabnormal– Vesicoureteralreflux– Ureteropelvicjunction(UPJ)obstruction– Ureterovesicaljunction(UVJ)obstruction– Ectopicureter– Renalagenesis
Prenat Diagn 1999; 19: 418–423.
MulticysticDysplasticKidney
• Majorityinvoluteovertime• Longtermincreaseinhypertensionandtumors
• Riskislow,electivenephrectomyisnolongerroutinelyperformed
• Longtermsmallriskofchronicrenalfailure
Prenat Diagn 2001; 21:924
Long-TermOutcome
LargeHyperechoicKidneys
11/26/17
16
DefectsinTerminalMaturation
• AutosomalRecessivePolycysticKidneyDisease(ARPKD)
• AutosomalDominantPolycysticKidneyDisease(ADPKD)
PartofCiliopathygroupofSyndromes
PolycysticKidneyDisease
• AutosomalRecessivePolycysticKidneyDisease(ARPKD)– Cystsoriginatefromcollectingducts– Numeroussmallcysts
• AutosomalDominantPolycysticKidneyDisease(ADPKD)– Cystsoriginatefromallnephron– Fewerlargercysts
KeyDifference
• Singlegenedisorder• 1:20,000-50,000births• M:F=1
• MutationofPKHD1gene-chromosome6p12
• Encodeabnormalproteins,fibrocystins,causingnumeroussmallcyststoforminthecollectingtubules
AutosomalRecessivePKDIncidenceandPathogenesis
AutosomalRecessivePKDUltrasoundFeatures• Enlargedhyperechoickidneys(>2SD)• Lossofcortico-medullarydifferentiation
• Cystsundetectablebyultrasound• Difficulttodiscerncalycealpattern• Smallorabsentbladder• Oligohydramnios• Kidneyechogenicitycanbeseenby12-16weeks
• PrenataldiagnosisifinformativePrenat Diagn 2001; 21:924
95
Fetus 1- ARPKD Fetus 2 - Sibling - ARPKD
AutosomalRecessivePKDFirstTrimester
• Variablephenotypeexpression• Eitherverypoorwithdeathinneonatalperiod• Quitereasonableifsurviveneonatalperiod
• Severehypertension,• Hepaticfibrosis• Recurrentinfections
AutosomalRecessivePKDPrognosis
11/26/17
17
AutosomalDominantPKDIncidenceandPathogenesis
• 1/1000births• MutationsinthePKD-1(85%)orPKD-2(15%)genes(Chromosome16)
• PKD-2associatedwithmilderdisease• Largecyststhroughoutthenephron• Interstitialfibrosis• Hypertensionandrenalfailureinadulthood
PrenatDiagn2001;21:pp.924-935
AutosomalDominantPKDUltrasoundFeatures
• Enlargedechogenickidneys• Individualcystsmaybevisible• Calycealsystemtypicallyvisible• Normalbladder• Normalamnioticfluid• Parentwithrenalcysts• Kidneyechogenicityrarelyseenbefore16weeks
PrenatDiagn2001;21:924
AutosomalDominantPKD AutosomalDominantPKDMaternalKidneys
Prognosis
• Usuallyasymptomaticuntil5thdecade
• PresentswithHTN&end-stagerenalfailure
• Accountsfor10-15%ofrenaldialysisortransplant
AutosomalDominantPKD Conclusions• Understandspectrumofrenalabnormalitiesandoverlapbetweenentities
• NewUTDclassification(2014)• Normalamnioticfluid>14weeksindicatesrenalfunction
• Complexityinpatientcounseling–manyrenaldiseaseshavevariableexpression
• Isolatedunilateralrenalanomaliesareusuallyassociatedwithgoodoutcomes
• Bilateralrenalanomaliescarriesguardedprognosis
top related