CYSTIC RENAL DYSPLASIA ... Sponge like Kidney ,Dilated

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Kidney
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• Congenital anomalies
• 1. Renal Dysplasias and Hypoplasias 20 of CRF
  in children
• 2. Autosomal-dominant PKD Adults, 10 of CRF in
  adults
• 3. Hypoplasia failure of kidney development, no
  scars
• If bilateral? childhood renal failure
• 4. OligoMegaNephronia small kidney with
  hypertrophied Nephrons
• 5. Ectopic Kidneys At low levels (above pelvic
  brim or within pelvis)
• Causes kinking or tortuosity of the ureters?
  obstruction to urinary flow? infections
• 6.Renal Agenesis complete absence
• If bilateral? incompatible with life (Stillborn
  babies)
• If Unilateral ?associated with limb defects,
  hypoplastic lungs, normal life but compensatory
  hypertrophy of other kidney and CRF in some
  patients
• 7. Horseshoe Kidneys Fusion poles (MC in lower
  pole 90)
• Causes kinking and torsion of Ureters

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• Cystic Diseases Hereditary or Nonhereditary,
  developmental or acquired ,Confused with
  malignant tumors, Cause CRF
• Cystic renal dysplasia
• Polycystic kidney disease (PKD) HTN, Berry
  aneurysms,
• Autosomal-dominant (adult) types (ADPKD1 ADKKD
  2)
• Autosomal-recessive (childhood) -ARPKD
• Medullary cystic disease
• Medullary sponge kidney
• Nephronophthesis
• Acquired dialysis-associated) cystic disease
• 5. Localized (simple) renal cysts
• 6. Renal cysts in hereditary malformation
  syndromes (Tuberous sclerosis)
• 7. Glomerulocystic disease
• 8. Extraparenchymal renal cysts (pyelocalyceal
  cysts, hilar lymphangitic cysts)
• 1. CYSTIC RENAL DYSPLASIA Abnormal metanephric
  differentiation may cause ureteropelvic
  obstruction, ureteral agenesis or atresia

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Renal dysplasia
disorganized architecture, dilated tubules with
cuffs of primitive stroma, and an island of
cartilage
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• Cystic Diseases
• 2(a). ADPKD multiple cysts of both kidneys ,AD
  with high penetrance
• universally Bilateral, Basic defect - disruption
  in the regulation of intracellular Ca2 levels
• Gross appearance Bilaterally enlarged kidneys (4
  kg each)
• Microscopic examination Functioning Nephrons
• Prognosis Rapid Progression in dark skinned,
  males, HTN pts.
• Extra-renal congenital anomalies Cysts (spleen,
  pancreas, lungs, liver) Berry aneurysms
• Death is due to CAD or HTN (40), Infections (
  25), Subarachnoid hemorrhage from ruptured berry
  aneurysm (15 )

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ADPKD

• PKD1 gene
• chromosome16p13.3
• MC -80 Cases
• Most severe
• Early ESRD or Death
• (53 yrs.)
• Gene encodes membrane protein polycystin-1
• localized to tubular epithelial cells

• PKD2 gene
• 4q21
• Less Common
• Less severe
• Late onset ESRD or Death (69 yrs.)
• polycystin-2
• localized to all segments of the renal tubules
  extra-renal tissues.

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• Cystic Diseases
• 2(b). ARPKD Perinatal, Neonatal (MC),
  infantile, and juvenile subcategories
• Genetically homogeneous, Chromosome 6? Gene-
  PKHD1 ?Protein- Fibrocystin (expressed in adult
  and fetal kidney and also in liver pancreas)
• Gross Bilateral Enlarged kidneys with Smooth
  external appearance
• Cut section Numerous small cysts in cortex and
  medulla, Sponge like Kidney ,Dilated elongated
  collecting tubules at right angles to the
  cortical surface
• Congenital hepatic fibrosis periportal fibrosis
  with proliferation of biliary ducts
• Seen in ARPKD

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ADPKD ARPKD

• ADPKD
• AD
• Irregular
• Flattened
• Liver cysts (40)

• ARPKD
• AR
• Smooth
• Cuboidal
• Liver cysts (100)

Features Inheritance E/S Lining
epithelium Extra renal
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ADPKD ARPKD

• ADPKD
• PKD 1,2
• Polycystin -1 ,2
• 16 , 4
• Occasional

• ARPKD
• PKHD 1
• Fibrocystin
• 6
• Frequent (mainly in infantile Juvenile forms)

Type Gene Protein Chromosome Congenital
hepatic fibrosis
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ADPKD ARPKD
ADPKD
ARPKD
Liver with cysts in ADPKD
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• Cystic Diseases
• 3. Medullary cystic disease (Medullary sponge
  kidney Nephronophthesis)
• Medullary sponge kidney incidental finding in
  adults with normal renal function
• Nephronophthesis MC genetic cause of ESRD in
  children and young adults
• Mc type Familial juvenile Nephronophthesis
  (40-50), - AR
• present first with Polyuria and polydipsia
• Sodium wasting and tubular acidosis
• progression to ESRD during a period of 5 to 10
  years
• Disease is strongly considered in
• children or adolescents with unexplained CRF
• Positive family history
• Chronic Tubulointerstitial nephritis on biopsy

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Medullary sponge kidney Nephronophthesis

• Medullary sponge kidney
• common
• Adults
• Incidental
• No
• Not known
• medulla

• Nephronophthesis
• Less common
• Children
• Symptomatic
• Yes
• Genetic (AD, AR)
• CM junction

Features Frequency Age Significance Scarring Path
ogenesis Location of cysts
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Medullary cystic disease
cysts at the corticomedullary jn. and in the
medulla.
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• Cystic Diseases
• 4. Acquired (dialysis-associated) cystic disease
• Numerous cortical and Medullary cysts
• contain calcium oxalate crystals
• Most ominous complication is Renal cell carcinoma
  -7 in 10 years
• 5. Simple cysts common postmortem findings
  without clinical significance

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• The worst thing (in ones life) is self cheating
• The best thing (in ones life) is self
  realization
• Krishna T