congenital anomalies csbrp

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Renal system

Renal systemDr.CSBR.Prasad, MD.,

Congenital anomalies

Congenital anomaliesAgenesis of the kidneyHypoplasiaEctopic kidneyHorseshoe kidneyMulticystic renal dysplasia

Agenesis of the kidneyBilateral agenesisIncompatible with lifeAssociated with other congenital anomaliesStill born infantsUnilateral agenesisCompatible with lifeCompensatory hypertrophy of opposite kidneyChronic kidney disease may ensue

Agenesis of the kidney

Agenesis refers to the absence of formation of a body part in embryogenesis. Here the kidneys are absent from the retroperitoneum, and this renal agenesis will result in oligohydramnios, because amniotic fluid is mainly derived from fetal urine. The oligohydramnios leads to deformations such as a constricted chest, diminished lung development, and pulmonary hypoplasia.5

Agenesis of the kidney

Agenesis refers to the absence of formation of a body part in embryogenesis. Here the kidneys are absent from the retroperitoneum, and this renal agenesis will result in oligohydramnios, because amniotic fluid is mainly derived from fetal urine. The oligohydramnios leads to deformations such as a constricted chest, diminished lung development, and pulmonary hypoplasia.6

Potter facies

Potter facies

HypoplasiaSmall kidneys:BilateralRenal failure in early childhoodUsually unilateralMost commonly this is due to ACQUIRED - vascular, infectious causesCongenital: few nephrons, no scarsAcquired: few nephrons, scarring

Hypoplasia

Hypoplasia

Ectopic kidneysAbove the pelvic brimIn the pelvisThey are of normal size and functioningComplications:Due to their position ureters become tortuous > get kinked > obstruction to urinary flow > UTI

Ectopic kidneys

Horseshoe kidneysFusion can occur either in the upper or lower poles90% fusion in the lower poles10% fusion in the upper polesMiddle portion is anterior to the great vessels1 in 500 to 1000 autopsiesComplications:Ureteral obstruction & associated complications

Horseshoe kidneys

Horseshoe kidneys

Multicystic renal dysplasiaDue to abnormal metanephric differentiationOther associations:Ureteropelvic obstructionUreteral agenesisAtresiaOther lower urinary tract anomalies

Multicystic renal dysplasiaGross:Unilateral / bilateralEnlarged, irregular and multicystic

Histologically:Undifferentiated mesenchymeCartilageImmature collecting ductulesAbnormal lobar organizationCysts are lined by flattened epitheliumNephrons may be normal But, collecting ducts are immature

Multicystic renal dysplasia

Multicystic renal dysplasia

Multicystic renal dysplasia

Multicystic renal dysplasia

Cystic diseases of the Kidney

Cystic diseases of the KidneyHeterogeneousHereditaryDevelopmentalAcquired Imporatance:They are commonPresents a diagnostic problemOccasionally confused with MalignancyGenetic cystic diseases are a cause for Chronic kidney disease

Include classification from robbins

Include tabel from Robbins

AD (Adult) polycystic kidney disease(ADPKD)AD with high penetranceMultiple expanding cysts destroy the renal parenchymaChronic renal failure1 in 500 to 1000 live births5-10% of cases of CRF

AD (Adult) polycystic kidney disease(ADPKD)BilateralInitially involves only portions of nephrons in cystic degeneration, hence,Renal functions are preserved for a long timePresentation in 4th & 5th decade of life

AD (Adult) polycystic kidney disease(ADPKD)Genetics:AD with high penetranceRequires mutation in both alleles of PKD geneProducts of PKD genes are located in the cilia or renal tubulesPKD1 (16p13.3) Encodes 460kD polycystin-1, transmembrane proteinCell-Cell & Cell-Matrix interactionsmost common (85%)End stage renal disease by 53yrsPKD2 (4q21)Encodes polycystine-2, integral membrane protein, Ca+ channelEnd stage renal disease by 69yrs

AD (Adult) polycystic kidney disease(ADPKD)Pathogenesis:Abnormal CILIA-CENTROSOME complex of tubular epithelial cellsits a CILOPATHYEpithelium of tubules contain single non-motile cilium of 2-3m longFuction: Mechanoceptor, monitors the changes in fluid flowThey also regulate ion flux Regulate cell polarity and proliferationHypothesis: defects in mechanosensing, Ca+ flux and signal transduction underlie cyst formation

AD (Adult) polycystic kidney disease(ADPKD)Fig 20-46 from robbins

AD (Adult) polycystic kidney disease(ADPKD)ADPKD is a systemic disorderCysts are also seen in other organs

AD (Adult) polycystic kidney disease(ADPKD)Liver cysts

AD (Adult) polycystic kidney disease(ADPKD)Morphology:Gross: Both kidneys are enlargedMay attain enormous size, 4kgs eachExternal surface shows cysts 3-4cms in diameterNo normal intervening parenchymaMicroscopy:Cysts may have variable lining epithelia as they may arise in different portions of renal tubulesThere may be little normal intervening renal tissueCysts filled with serous fluid / brown turbid fluid

AD (Adult) polycystic kidney disease

AD (Adult) polycystic kidney disease

AD (Adult) polycystic kidney disease

AD (Adult) polycystic kidney diseaseClinical features:Usually asymptomatic until renal failure ensueHemorrhages / progressive dilatation of the cysts may produce painDragging sensation in the abdomenHematuriaProteinuriaPolyuriaHypertensionOther associated anomalies:40% liver cystsSplenic / pancreatic / lung cystsIntracranial berry aneurysmsMVP

AD (Adult) polycystic kidney disease(ADPKD)Death due to:CHD / Hypertensive heart disease 40%Infections 25%Ruptured berry aneurysmHypertensive intracranial hemorrhage

AR (Childhood) polycystic kidney disease(ARPKD)Subcategories:Depending on the time of presentationPresence of associated hepatic lesionsPerinatalNeonatalInfantile &Juvenile 1 & 2 are most common, serious manifestations, rapid renal failure

AR (Childhood) polycystic kidney disease(ARPKD)Genetics:PKHD1 Chr 6p21-p23Encodes 447kD integral membrane protein fibrocystineThey are located in the ciliumThey are associated with collecting duct and biliary duct differentiation

AR (Childhood) polycystic kidney disease(ARPKD)Morphology:Gross:Kidneys are enlargedSmooth external surfacec/s small cysts in the cortex and medulla sponge kdneyMicroscopy:Cylindrical saccular dilatations of collecting ductsCysts are lined by cuboidal cellsLiver cysts 100% (Biliary duct cysts)

AR (Childhood) polycystic kidney disease(ARPKD)Complications:Congenital hepatic fibrosisPortal hypertensionSplenomegaly

Congenital hepatic fibrosis

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