3. Cystic Renal Disease - Cox

• Autosomal Dominant Polycystic Kidney Disease also known as ciliopathies
• ADPKD - defect in primary cilium - hair-like organelle on most cells including tubular epithelium

  • forming cyst in all region of nephron
• *** Polycystic kidney disease - cause death by cerebral berry aneurysm
• difference btw recessive and dominant polycystic disease

  • recessive - bilateral at birth
• Recessive PKD

  • in utero - has low urine output due to oligohydramnios
  • present with POTTER
• recessive PKD - elongated cysts - collecting duct dilation + fluid accumulation

  • cyst is lined by cuboidal or flatten cells
• Medullary Renal Dysplasia (MRD) - abnormal differentiation of metanephric or renal parenchyma
• Medullary sponge kidney - bilateral cystic dilation of medullary collecting ducts
• Medullary Renal Dysplasia (MRD) - key finding

  • pyramidal calcification
• Nephronophthisis - defect cilia structure

  • causing severe tubular atrophy with thick BM due to fibrosis + chronic inflammation
• simple (benign) cyst - discrete fluid filled cystic lesion within parenchyma or capsular surface
• simple cyst - make sure to biopsy
• Acquired cyst disease - pseudopapillae with nuclear enlargement + loss of polarity

  • contain oxalate crystals