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cystic kidney.pptx

  1. Cystic Diseases Of Kidney Presenter: Dr. Soumya Gupta Dr. Shalini Radhakrishnan
  2. Objectives • Introduction • Pathogenesis • Glossary of terms • Classification • Morphology • Associated syndromes • Approach to diagnosis • Summary
  3. Renal Cystic Diseases Hereditary Non hereditary Acquired condition Acquired condition Sole manifestation Accompany extrarenal abnormalities Part of a well-defined syndrome • Fluid filled spaces in the kidney
  4. Pathogenesis Inherited Acquired alterations in genes formation and function of cilia-centrosome complex of tubular epithelial cells. obstructive, degenerative, stromal–epithelial malinductive, and neoplastic mechanisms.
  5. Pathogenesis
  6. Pathogenesis • Advances in molecular genetics have led to the identification of > 70 genes • Requires a methodical and meticulous approach to differential diagnosis
  7. GLOSSARY OF TERMS Cyst Polycystic • any closed cavity • with an epithelial lining • genetically determined cystic lesions • AD adult form or AR infantile form • Bilateral
  8. GLOSSARY OF TERMS Multicystic Pluricystic Sponge kidney • multiple cystic lesions • most frequently sporadic • small, large, segmental • u/l • multiple renal cysts • inherited and noninherited syndrome • with extrarenal manifestations • usually sporadic cystic abnormality • commonly diagnosed radiographically
  9. GLOSSARY OF TERMS Glomerulocystic Microcystic Cystic tumor/ Or cystic change in a tumor glomerular cyst congenital nephrotic syndrome neoplasm forming cystic spaces, fluid secretion, and/or degenerative cavitation
  10. Classification 1.Autosomal Dominant Polycystic kidney Disease ADPKD • Classic ADPKD of adults • ADPKD of infants 2.Autosomal Recessive Polycystic Kidney Disease ARPKD • Classic of newborn • ARPKD & congenital hepatic fibrosis in adults 3.Unilateral Renal Cystic Disease URCD • Or Localised/ segmental cystic disease of kidney
  11. Classification 4. Solitary and multiple renal simple cysts 5. Dysplastic kidney 6. Pluricystic kidney of multiple malformations syndromes
  12. Classification 8. Juvenile nephronophthisis (JNPHP) and medullary cystic kidney disease (MCKD) 9. Medullary sponge kidney 10. Glomerulocystic kidney disease (GCKD) 7. Multilocular renal cyst - cystic nephroma (MLC–CN)
  13. Classification 11. Renal cysts in hereditary syndromes 12. Renal lymphangioma 13. Pyelo-calyceal cyst; peripelvic/parapelvic cyst; perinephric, pseudocyst; lymphocele 14. Acquired renal cystic disease
  14. Classification 15. Renal cell carcinoma with cystic change i. Multilocular cystic renal cell carcinoma ii. Unilocular cystic renal cell carcinoma iii. Carcinoma arising in a unilocular cyst iv. Necrotic cystic renal cell carcinoma v. Carcinoma arising in the background of ADPKD vi. Tubulo-cystic carcinoma of the kidney vii. Primary thyroid-like follicular carcinoma of the kidney viii. Renal medullary carcinoma
  15. Classification 16. Primary renal sarcoma i. Renal synovial sarcoma ii. ii. Clear cell sarcoma 17. Pseudo-cystic change of the kidney (hydronephrosis)
  16. Bosniak classification
  17. Potter’s classification Type I Type II Type III Type IV Infantine ARPDK Multicystic renal dysplasia Multilocular cystic nephroma. ADPDK Tuberous sclerosis. Medullary sponge kidney. Small cortical cysts cystic renal dysplasia secon dary to ureteropelvic junct ion obstruction. IIA IIB normal / increased size. reduced in size.
  18. Morphological Features
  19. Simple renal cysts • M/c cystic change • Few mm – 10cm in size • Cysts: lined by flattened cuboidal epithelium • Filled with clear fluid
  20. ADPKD • Recurrence risk : 50% in affected families • Incidence- 1:1000 • Genes: PKD1 gene(86%) on ch6 PKD2 gene(10%) on ch4 • Polycystin • Cysts develop from all segments of nephron
  21. ADPKD Diagnosis Criteria 2 cyst (uni/bi) <30 yr old 2 cyst in each kidney 30-59 yr old 4 cyst in each kidney >/=60 yr old
  22. ADPKD Outer Surface • Markedly enlarged (3-4kg) • Adult • Large cysts • Filling up the kidney Cut surface • Very large cysts • Filled with clear fluids • Or hemorrhage
  23. ADPKD • Very rarely, ADPKD can manifest at birth • Microscopy: Glomerular cyst
  24. ARPKD • Recurrence risk : 25% affected families • Bilateral • Mutations - PKHD1 gene :Fibrocystin • Ciliary signaling • Regulation of proliferation and differentiation of renal and biliary tract epithelial cells • Dilation of renal collecting ducts
  25. Normal Fetal Kidney • Reniform shape • Fetal lobulations • Nephrogenic zone underneath the renal capsule
  26. ARPKD • Markedly enlarged • Bilateral • Symmetrical • Displacing abdominal contents Cut Surface • Cysts are relatively small • Uniformly distributed throughout the parencyma • No distinguishable cortex or medulla.
  27. ARPKD Microscopy • radially arranged cysts • Dilated collecting ducts • Forming elongated cortical cysts
  28. Multicystic Renal Dysplasia • Sporadic inheritance pattern • M/c form :inherited cystic renal disease • Abnormal differentiation: metanephric parenchyma • During embryologic development • Unilateral • Compensatory hyperplasia: other kidney
  29. Multicystic Renal Dysplasia • Asymmetrical kidneys • Large & irregular cysts • Filled with clear fluid
  30. Multicystic Renal Dysplasia Low Power • Irregular cysts • Intervening loose stroma • "Primitive ducts" lined by cuboidal to columnar epithelium • Occasional glomeruli and tubules.
  31. Multicystic Renal Dysplasia High Power • Occasional islands of cartilage in the stroma
  32. Medullary sponge kidney (MSK) • Congenital, sporadic, b/l, incidental finding • Renal failure: unlikely • Result from : severe pyelonephritis.
  33. Medullary sponge kidney (MSK) • 0.1- 0.5 cm cysts • Inner medullary and papillary regions • Cortex appears normal
  34. Cystic Change with Obstruction • Fetus & newborn: urinary tract obstruction • Cystic change can occur in the kidneys • In addition to hydroureter, hydronephrosis, and bladder dilation • Grossly: may not be apparent • The cysts may be < 1 mm in size.
  35. Cystic Change with Obstruction Gross • Ureteral obstruction - hydronephrosis • Cortical microcyst formation • Microcysts: grossly may not visible
  36. Cystic Change with Obstruction Microscopy • Cysts appear near the nephrogenic zone • Developing glome ruli are most sensitive to the increased pressure • Cortical microcysts
  37. Renal failure on long-term dialysis • > numerous: simple renal cysts • < numerous & smaller :cysts with ADPKD • Size of the kidneys is not markedly increased
  38. Renal cell carcinoma with cystic change • 4% to 15% of RCCs • 30% of clear cell variant (ccRCC). • Cystic RCC: a predominantly cystic pattern of growth • Neoplastic cells occupying </= 25% of tumor volume
  39. Renal cell carcinoma with cystic change • 2019 Bosniak classification : multilocular cystic RCC to multilocular cystic renal neoplasm of low malignant potential (MCNLMP) • Cystic clear cell (CC) RCC : favourable outcome compared to non-cystic CC RCC
  40. Tubulocystic RCC Gross • Circumscribed, unencapsulated • Cortical location • Swiss cheese
  41. Tubulocystic RCC Microscopy • Lined by single layer of neoplastic cells • Seperated by thin fibrous septae • Lack desmoplastic stroma
  42. Syndromes
  43. Syndrome Renal Menifestation Extrarenal Menifestation Senior– Loken syndrome (SLSN) corticomedullary cysts, polydipsia, polyuria Retinitis pigmentosa Joubert syndrome (JBS) corticomedullary cysts, polydipsia, polyuria Cerebellar vermis hypoplasia, liver fibrosis, retinitis pigmentosa Meckel– Gruber syndrome (MGS) corticomedullary cysts, polydipsia, polyuria fibrocystic liver disease, CNS malformations
  44. Syndrome Renal Menifestation Extrarenal Menifestation Bardet–Biedl syndrome (BBS) corticomedullary cysts, polydipsia, polyuria Polydactyly, juvenile obesity, mental retardation, retinal defects, anosmia, hypogonadism VHL syndrome RCC, multiple renal cysts, resembling ADPKD Haemangioblastoma, phaeochromocytomas , pancreatic cysts Tuberous sclerosis complex angiomyolipoma, RCC, multiple renal cysts Hypomelanotic macules, epilepsy, cognitive dysfunction
  45. Approach to diagnosis
  46. Summary
  47. Inheritance Age Laterality Kidney Size Location ADPKD Inherited Adult B/L Increased Cortex ARPKD Inherited Infant B/L Increased Throughout Medullary cystic disease Childhood: AR Adult: sporadic/ AD Children/ Adult B/L -/ Decreased Medulla/ CMJ Multicystic dysplastic Inherited 20 wks in utero U/L Decreased Throughout Medullary sponge Sporadic Adult B/L 80% U/L 20% - Medulla Glomerulocystic Sporadic Children/ Newborn B/L - Cortex Acquired renal cystic Acquired Adult B/L Decrease Cortex>Medulla
  48. GIST

Editor's Notes

  1. Glomerulocystic disease is a primary disease glomerulocystic kidney : kidney with glomerular cysts as a dominant manifestation
  2. Radiological classification
  3. Occasionally, a simple renal cyst can reach a large size and mimic a tumor mass, though the difference is usually obvious with radiographic procedures. Such a large cyst can be complicated by hemorrhage or rupture.
  4. PKD1 gene, encoding for polycystin-1
  5. 1.  other organs may be involved in adults with polycystic change, including liver (and less commonly pancreas) 2.intracranial berry aneurysms are more common, and rupture of such an aneurysm may preceed development of renal failure.
  6. The kidneys are affected bilaterally, so that in utero, there is typically oligohydramnios because of poor renal function and failure to form significant amounts of fetal urine. The most significant result from oligohydramnios is pulmonary hypoplasia, so that newborns do not have sufficient lung capacity to survive, irrespective of any attempt to treat renal failure. 2.liver: there is expansion of portal tracts from ductal plate malformation with increased numbers of dilated bile ductules in expanded fibrous connective tissue, called congenital hepatic fibrosis
  7. Meckel-Gruber syndrome 2. disease is bilateral, the problems associated with oligohydramnios are present, with pulmonary hypoplasia 
  8. No normal renal parenchyma is left
  9. The liver will not show congenital hepatic fibrosis.
  10. patients with MSK can develop calculi, typically in association with hypercalciuria.
  11. "Type IV" in the Potter's classification
  12. the kidneys are still generally small, because most diseases leading to renal failure produce small, shrunken kidneys with end-stage renal disease.
  13. Medullary cystic infant form: enlarged kidney Also called juvenile nephropthisis