congenital anomalies csbrp
TRANSCRIPT
Renal system
Dr.CSBR.Prasad, MD.,
Congenital anomalies
Congenital anomalies
• Agenesis of the kidney• Hypoplasia• Ectopic kidney• Horseshoe kidney• Multicystic renal dysplasia
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
Agenesis of the kidney
Agenesis of the kidney
Potter facies
Potter facies
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
Hypoplasia
Hypoplasia
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
Ectopic kidneys
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
Horseshoe kidneys
Horseshoe kidneys
Multicystic renal dysplasia
• Due to abnormal metanephric differentiation• Other associations:– Ureteropelvic obstruction– Ureteral agenesis– Atresia– Other lower urinary tract anomalies
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
Multicystic renal dysplasia
Multicystic renal dysplasia
Multicystic renal dysplasia
Multicystic renal dysplasia
Cystic diseases of the Kidney
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
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
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
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
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
AD (Adult) polycystic kidney disease(ADPKD)
• ADPKD is a systemic disorder– Cysts are also seen in other organs
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
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 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
AD (Adult) polycystic kidney disease(ADPKD)
Death due to:• CHD / Hypertensive heart disease 40%• Infections 25%• Ruptured berry aneurysm• Hypertensive intracranial hemorrhage
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
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
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)
AR (Childhood) polycystic kidney disease(ARPKD)
Complications:– Congenital hepatic fibrosis– Portal hypertension– Splenomegaly
Congenital hepatic fibrosis
END