Download - Congenital anomalies csbrp
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Renal system
Dr.CSBR.Prasad, MD.,
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Congenital anomalies
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Congenital anomalies
• Agenesis of the kidney• Hypoplasia• Ectopic kidney• Horseshoe kidney• Multicystic renal dysplasia
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Agenesis of the kidney
• Bilateral agenesis– Incompatible with life– Associated with other congenital anomalies– Still born infants
• Unilateral agenesis– Compatible with life– Compensatory hypertrophy of opposite kidney– Chronic kidney disease may ensue
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Agenesis of the kidney
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Agenesis of the kidney
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Potter facies
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Potter facies
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Hypoplasia
• Small kidneys:– Bilateral• Renal failure in early childhood
– Usually unilateral• Most commonly this is due to ACQUIRED -
vascular, infectious causes• Congenital: few nephrons, no scars• Acquired: few nephrons, scarring
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Hypoplasia
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Hypoplasia
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Ectopic kidneys
• Above the pelvic brim• In the pelvis• They are of normal size and functioningComplications:• Due to their position ureters become tortuous
> get kinked > obstruction to urinary flow > UTI
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Ectopic kidneys
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Horseshoe kidneys
• Fusion can occur either in the upper or lower poles– 90% fusion in the lower poles– 10% fusion in the upper poles
• Middle portion is anterior to the great vessels• 1 in 500 to 1000 autopsies• Complications:– Ureteral obstruction & associated complications
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Horseshoe kidneys
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Horseshoe kidneys
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Multicystic renal dysplasia
• Due to abnormal metanephric differentiation• Other associations:– Ureteropelvic obstruction– Ureteral agenesis– Atresia– Other lower urinary tract anomalies
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Multicystic renal dysplasia• Gross:
– Unilateral / bilateral– Enlarged, irregular and multicystic
• Histologically:– Undifferentiated mesenchyme– Cartilage– Immature collecting ductules– Abnormal lobar organization– Cysts are lined by flattened epithelium– Nephrons may be normal But, collecting ducts are immature
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Multicystic renal dysplasia
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Multicystic renal dysplasia
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Multicystic renal dysplasia
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Multicystic renal dysplasia
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Cystic diseases of the Kidney
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Cystic diseases of the Kidney
• Heterogeneous– Hereditary– Developmental– Acquired
• Imporatance:– They are common– Presents a diagnostic problem
• Occasionally confused with Malignancy– Genetic cystic diseases are a cause for Chronic kidney
disease
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AD (Adult) polycystic kidney disease(ADPKD)
• AD with high penetrance• Multiple expanding cysts destroy the renal
parenchyma• Chronic renal failure• 1 in 500 to 1000 live births• 5-10% of cases of CRF
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AD (Adult) polycystic kidney disease(ADPKD)
• Bilateral• Initially involves only portions of nephrons in
cystic degeneration, hence,• Renal functions are preserved for a long time• Presentation in 4th & 5th decade of life
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AD (Adult) polycystic kidney disease(ADPKD)
Genetics:• AD with high penetrance• Requires mutation in both alleles of PKD gene• Products of PKD genes are located in the cilia or renal tubules• PKD1 (16p13.3) – Encodes 460kD polycystin-1, transmembrane protein– Cell-Cell & Cell-Matrix interactions– most common (85%)– End stage renal disease by 53yrs
• PKD2 (4q21)– Encodes polycystine-2, integral membrane protein, Ca+
channel– End stage renal disease by 69yrs
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AD (Adult) polycystic kidney disease(ADPKD)
Pathogenesis:• Abnormal CILIA-CENTROSOME complex of tubular epithelial
cells• it’s a CILOPATHY
– Epithelium of tubules contain single non-motile cilium of 2-3µm long• Fuction:
– Mechanoceptor, monitors the changes in fluid flow– They also regulate ion flux – Regulate cell polarity and proliferation
• Hypothesis: defects in mechanosensing, Ca+ flux and signal transduction underlie cyst formation
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AD (Adult) polycystic kidney disease(ADPKD)
• ADPKD is a systemic disorder– Cysts are also seen in other organs
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AD (Adult) polycystic kidney disease(ADPKD)
Morphology:– Gross: • Both kidneys are enlarged• May attain enormous size, 4kgs each• External surface shows cysts 3-4cms in diameter• No normal intervening parenchyma
– Microscopy:• Cysts may have variable lining epithelia as they may
arise in different portions of renal tubules• There may be little normal intervening renal tissue• Cysts filled with serous fluid / brown turbid fluid
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AD (Adult) polycystic kidney disease
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AD (Adult) polycystic kidney disease
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AD (Adult) polycystic kidney disease
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AD (Adult) polycystic kidney diseaseClinical features:• Usually asymptomatic until renal failure ensue• Hemorrhages / progressive dilatation of the cysts may
produce pain• Dragging sensation in the abdomen• Hematuria• Proteinuria• Polyuria• Hypertension• Other associated anomalies:
– 40% liver cysts– Splenic / pancreatic / lung cysts– Intracranial berry aneurysms– MVP
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AD (Adult) polycystic kidney disease(ADPKD)
Death due to:• CHD / Hypertensive heart disease 40%• Infections 25%• Ruptured berry aneurysm• Hypertensive intracranial hemorrhage
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AR (Childhood) polycystic kidney disease(ARPKD)
Subcategories:– Depending on the time of presentation– Presence of associated hepatic lesions
1. Perinatal2. Neonatal3. Infantile &4. Juvenile 1 & 2 are most common, serious manifestations,
rapid renal failure
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AR (Childhood) polycystic kidney disease(ARPKD)
Genetics:• PKHD1 Chr 6p21-p23• Encodes 447kD integral membrane protein
fibrocystine• They are located in the cilium• They are associated with collecting duct and
biliary duct differentiation
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AR (Childhood) polycystic kidney disease(ARPKD)
Morphology:Gross:• Kidneys are enlarged• Smooth external surface• c/s small cysts in the cortex and medulla – sponge
kdneyMicroscopy:• Cylindrical saccular dilatations of collecting ducts• Cysts are lined by cuboidal cells• Liver cysts 100% (Biliary duct cysts)
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AR (Childhood) polycystic kidney disease(ARPKD)
Complications:– Congenital hepatic fibrosis– Portal hypertension– Splenomegaly
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Congenital hepatic fibrosis
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