congenital anomalies csbrp

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Renal system Dr.CSBR.Prasad, MD.,

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Page 1: Congenital anomalies csbrp

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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