Pedi gu review cystic disease i


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Pedi gu review cystic disease i

  1. 1. CYSTIC DISEASE Pediatric GU Review UCSD Pediatric Urology George Chiang MD Sara Marietti MD Outlined from The Kelalis-King-Belman Textbook of Clinical Pediatric Urology 2007 (not for reproduction, distribution, or sale without consent)
  2. 2. Definitions <ul><li>Abnormal sac or dilated duct within the kidney lined by epithelium </li></ul><ul><li>Micro or macroscopic </li></ul><ul><li>May communicate or be in continuity with the nephron, collecting duct or calyx </li></ul><ul><li>+/- dysplasia </li></ul>
  3. 3. Categories <ul><li>Genetic </li></ul><ul><ul><li>ARPKD </li></ul></ul><ul><ul><li>ADPKD </li></ul></ul><ul><ul><li>Juvenile nephronophthisis-medullary cystic dz </li></ul></ul><ul><ul><li>Congenital nephrosis </li></ul></ul><ul><ul><li>Familial hypoplastic glomerulocystic kidney dz </li></ul></ul><ul><ul><li>VHL </li></ul></ul><ul><ul><li>Tuberous sclerosis </li></ul></ul>
  4. 4. Categories <ul><li>Non-genetic </li></ul><ul><ul><li>MCDK </li></ul></ul><ul><ul><li>Cystic Nephroma (benign multilocular cyst) </li></ul></ul><ul><ul><li>Simple cysts </li></ul></ul><ul><ul><li>Medullary sponge kidney </li></ul></ul><ul><ul><li>Sporadic glomerulocystic kidney dz </li></ul></ul><ul><ul><li>Acquired renal cystic dz </li></ul></ul><ul><ul><li>Calyceal diverticulum </li></ul></ul>
  5. 5. Polycystic Kidney Disease <ul><li>Autosomal recessive polycystic kidney disease </li></ul><ul><ul><li>Can appear in adolescents </li></ul></ul><ul><li>Autosomal dominant polycystic kidney disease </li></ul><ul><ul><li>Can appear in infants </li></ul></ul>
  6. 6. ARPKD <ul><li>Incidence – 1 in 5,000 to 40,000 </li></ul><ul><li>2.1% of all childhood ESRD </li></ul><ul><li>Mutation of PKHD1 on chromosome 6 </li></ul><ul><li>Cysts primarily in collecting ducts </li></ul><ul><li>Associated liver findings </li></ul><ul><ul><li>Congenital Hepatic Fibrosis </li></ul></ul><ul><ul><ul><li>Biliary ectasia </li></ul></ul></ul><ul><ul><ul><li>Periportal fibrosis </li></ul></ul></ul><ul><ul><ul><li>Portal hypertension </li></ul></ul></ul>
  7. 7. ARPKD <ul><li>In general </li></ul><ul><ul><li>The more severe the ARPKD the milder the CHF and vice versa </li></ul></ul><ul><ul><li>The later the ARPKD presents the slower the progression to renal failure </li></ul></ul><ul><ul><li>All pts will develop either renal failure or CHF or both </li></ul></ul>
  8. 8. ARPKD - Kidneys Large, Hyperechogenic Large, Cystic Smaller on Dialysis
  9. 9. ADPKD <ul><li>Incidence – 1 in 500 to 1,000 </li></ul><ul><li>Most prevalent hereditary renal disorder </li></ul><ul><li>Accounts for 10-20% of pts on HD </li></ul><ul><li>PKD1 – Chromosome 16 </li></ul><ul><li>PKD2 – Chromosome 4 </li></ul><ul><li>Cysts in any part of the kidney </li></ul>
  10. 10. ADPKD – Genetic Phenomenon <ul><li>Gene Imprinting </li></ul><ul><ul><li>More severe when passed on by the mother </li></ul></ul><ul><li>Gene Anticipation </li></ul><ul><ul><li>Passed on progressively earlier and with greater severity in subsequent generations </li></ul></ul>
  11. 11. ADPKD - Kidneys Large, Hyperechogenic or Cystic Large, Cystic Large, cystic on Dialysis
  12. 12. ADPKD – Severity/Mortality <ul><li>40% of adults have no family history </li></ul><ul><li>38% diagnosed have a parent who is unaware they have the disease </li></ul><ul><li>50% are diagnosed at autopsy </li></ul><ul><li>Incidence of renal failure </li></ul><ul><ul><li>By age 40 – 2%, age 50 – 23%, age 73 – 48% </li></ul></ul><ul><li>Mortality </li></ul><ul><ul><li>Infants – renal failure </li></ul></ul><ul><ul><li>Adults – renal failure, HTN, Cerebral hemorrhage </li></ul></ul>
  13. 13. ADPKD – Renal Complications <ul><li>Hypertension - >80% with ESRD </li></ul><ul><li>Hematuria – 50% </li></ul><ul><li>Pain – 15-60% </li></ul><ul><li>UTI – frequent </li></ul><ul><li>Stones – 20% </li></ul><ul><li>Nephromegaly – 100% </li></ul><ul><li>Renal failure – 40% by age 60 </li></ul>
  14. 14. ADPKD – Extra-Renal <ul><li>GI </li></ul><ul><ul><li>Hepatic cysts -50%, increases with age </li></ul></ul><ul><ul><li>Pancreatic cysts </li></ul></ul><ul><ul><li>Colonic diverticuli </li></ul></ul><ul><li>Cardiovascular </li></ul><ul><ul><li>Mitral valve prolapse </li></ul></ul><ul><ul><li>Intracranial aneurysms </li></ul></ul>
  15. 15. Juvenile Nephronophthisis/Medullary Cystic Disease Complex <ul><li>Cysts at corticomedullary junction </li></ul><ul><li>JN – autosomal recessive </li></ul><ul><ul><li>Gene – NPH1,2,3 on chromosome 2 </li></ul></ul><ul><ul><li>Leading cause of renal failure in teenagers </li></ul></ul><ul><li>MCD – autosomal dominant </li></ul><ul><ul><li>Unknown genetic locus </li></ul></ul><ul><ul><li>Presents after age 20 </li></ul></ul><ul><li>Both assoc with interstitial nephritis </li></ul>
  16. 16. Tuberous Sclerosis <ul><li>Triad of adenoma sebaceum(75%), epilepsy (80%), and mental retardation(60%) </li></ul><ul><li>Renal masses </li></ul><ul><ul><li>Cysts – 20% (frequently before 3 yo) </li></ul></ul><ul><ul><li>RCC – 2% </li></ul></ul><ul><ul><li>AML – 50% (rare before 6yo) </li></ul></ul><ul><li>Autosomal dominant </li></ul><ul><ul><li>TSC1 on chromosome 9 </li></ul></ul><ul><ul><li>TSC2 on chromosome 16 – contiguous gene syndrome </li></ul></ul>
  17. 17. VHL <ul><li>Associated with cerebellar and retinal hemangioblastomas, cysts of pancreas, kidney(76%), and epididymis, pheo(10-12%), and RCC (50%) </li></ul><ul><li>Autosomal recessive </li></ul><ul><li>Chromosome 3 – tumor suppressor gene to regulate HIF </li></ul>
  18. 18. Multicystic Dysplastic Kidney <ul><li>Involves the entire kidney </li></ul><ul><li>Always show primitive ducts on path – tubules encased by fibromuscular cells – nephron precursor </li></ul><ul><li>3 forms </li></ul><ul><ul><li>Large cysts – bunch of grapes </li></ul></ul><ul><ul><li>Solid cystic dysplasia – small cysts </li></ul></ul><ul><ul><li>Hydronephrotic – prominent central medial cyst </li></ul></ul>
  19. 19. MCDK <ul><li>Non-Renaform shape on imaging </li></ul><ul><li>Small cysts between the larger ones </li></ul><ul><li>Communication may not be visible but is present </li></ul><ul><li>Associations </li></ul><ul><ul><li>Contralateral UPJ Obstruction – 3-12% </li></ul></ul><ul><ul><li>Contralateral VUR – 18-43% </li></ul></ul><ul><ul><li>HTN </li></ul></ul><ul><ul><li>Malignancy – Wilms’ tumor rare </li></ul></ul>
  20. 20. MCKD <ul><li>National MCKD Registry U/S Follow Up </li></ul>4-6 mos >5yrs Not Identifiable 7.2% 23.9% Smaller 65.7% 23.9% Larger 5% 1.3% Unchanged 22.1% 37.1%
  21. 21. Benign Multilocular Cyst (Cystic Nephroma) <ul><li>Well encapsulated </li></ul><ul><li>Unilateral and solitary </li></ul><ul><li>Multilocular </li></ul><ul><li>No communication between loculations </li></ul><ul><li>Non-dysplastic </li></ul><ul><li>Indistinguishable from Wilms’ tumor variants by imaging </li></ul><ul><li>Diagnosis – by surgical excision </li></ul>
  22. 22. Benign Multilocular Cysts <ul><li>Before 4yo – 67% male </li></ul><ul><li>After 30yo – 75% female </li></ul><ul><li>Cysts lined by cuboidal/columnar epithelium and contain clear/straw colored fluid </li></ul><ul><li>Septa composed of either fibrous tissue or immature (embryonic-type) tissue </li></ul>
  23. 23. Simple Cysts <ul><li>Incidence </li></ul><ul><ul><li>0-18 yrs – 0.22% </li></ul></ul><ul><ul><li>40 yrs – 20% </li></ul></ul><ul><ul><li>60 yrs – 33% </li></ul></ul><ul><ul><li>50 yrs + (on autopsy) - >50% </li></ul></ul>
  24. 24. Bozniak Classification <ul><li>Category I – good through transmission, no internal echoes, sharp smooth wall </li></ul><ul><ul><li>No surgery </li></ul></ul><ul><li>Category II – some septation, minimal calcificaitons </li></ul><ul><ul><li>No surgery </li></ul></ul><ul><li>Category IIF – significant calcification in the wall </li></ul><ul><ul><li>No surgery </li></ul></ul>
  25. 25. Bozniak Classification <ul><li>Category III – Prominent septation, thicker wall </li></ul><ul><ul><li>Surgery </li></ul></ul><ul><li>Category IV – Irregular margins, solid enhancing elements, probably malignant </li></ul><ul><ul><li>Surgery </li></ul></ul>
  26. 26. Medullary Sponge Kidney <ul><li>Usually after age 20 </li></ul><ul><li>Hypercalciuria – 33-50% </li></ul><ul><li>Renal colic – 50-60% </li></ul><ul><li>UTI – 20-30% (more in females) </li></ul><ul><li>Cystic lesions within collecting ducts </li></ul><ul><li>Mild concentrating defect </li></ul>
  27. 27. Acquired Renal Cystic Disease <ul><li>Typically seen in renal failure patients but don’t have to be on HD </li></ul><ul><li>Multiple bilateral small cysts </li></ul><ul><ul><li>Usually less then 0.5cm but may be 2.5-3cm </li></ul></ul><ul><ul><li>Some cysts associated with hyperplastic epithelium </li></ul></ul><ul><ul><li>Calcium oxalate crystals in cyst wall </li></ul></ul>
  28. 28. ARCD <ul><li>Pathogenesis </li></ul><ul><ul><li>Obstruction of nephrons by </li></ul></ul><ul><ul><ul><li>Focal proliferation of tubular epithelium </li></ul></ul></ul><ul><ul><ul><li>Interstitial fibrosis </li></ul></ul></ul><ul><ul><ul><li>Intratubular oxalate crystals </li></ul></ul></ul><ul><ul><li>Accumulation of cystogenic substances </li></ul></ul><ul><li>Clinical Manifestations </li></ul><ul><ul><li>Hemorrhage and hematuria </li></ul></ul><ul><ul><li>Infection and fever </li></ul></ul><ul><ul><li>Flank pain </li></ul></ul><ul><ul><li>Neoplasia </li></ul></ul>
  29. 29. ARCD <ul><li>10% of renal failure pts have renal adenomas </li></ul><ul><li>25% of ARCD pts have adenomas </li></ul><ul><li>Risk of RCC in ESRD is 3-6x general population </li></ul><ul><li>Risk of RCC in ESRD + ARCD >10x general population </li></ul>
  30. 30. QUESTIONS
  31. 31. <ul><li>The renal cystic condition that arises prior to the formation of the nephron is:: </li></ul><ul><li>Autosomal recessive PCKD </li></ul><ul><li>Autosomal dominant PCKD </li></ul><ul><li>Medullary sponge </li></ul><ul><li>Multicystic kidney disease </li></ul><ul><li>Juvenile nephronophthisis </li></ul>
  32. 32. <ul><li>A 6 week old boy has a large palpable right abdominal mass. Ultrasound demonstrates a fluid-filled mass with multiple cystic lucencies. A renal scan shows no uptake of the right kidney and a normal left kidney. He has moderate respiratory distress and an elevated right hemidiaphragm. The most appropriate therapy is: </li></ul><ul><li>Right nephrectomy </li></ul><ul><li>Percutaneous aspiration of the cysts </li></ul><ul><li>Cystoscopy and RGP </li></ul><ul><li>Right pyeloplasty </li></ul><ul><li>observation </li></ul>
  33. 33. <ul><li>A 3 year old boy has a palpable abdominal mass. Ultrasound and CT scan demonstrates a multilocular cyst. The next step is: </li></ul><ul><li>Repeat u/s in one year </li></ul><ul><li>Cyst aspiration </li></ul><ul><li>Genetic testing </li></ul><ul><li>Tumor resection </li></ul><ul><li>MRI scan </li></ul>
  34. 34. <ul><li>Ultrasound of a newborn baby with an abdominal mass shows an enlarged kidney containing large cystic spaces that do not appear to communicate with one another. The best test to confirm the diagnosis is: </li></ul><ul><li>CT Scan </li></ul><ul><li>IVP </li></ul><ul><li>Retrograde pyelogram </li></ul><ul><li>DMSA renal scan </li></ul><ul><li>Antegrade pyelogram </li></ul>
  35. 35. <ul><li>Medullary sponge kidney is: </li></ul><ul><li>Cystic dilation of the distal convoluted tubules </li></ul><ul><li>A bilateral and hereditary renal abnormality </li></ul><ul><li>Characterized by hypocitraturia </li></ul><ul><li>Best diagnosed by IVP </li></ul><ul><li>A precursor of end stage renal disease </li></ul>
  36. 36. <ul><li>A 5 year old boy with hepatosplenomegaly develops progressive azotemia and a renal concentrating defect. Ultrasound of the kidneys demonstrates slight enlargement with multiple small (1-2 cm) cortical cysts. An uncle died of renal disease. The most likely diagnosis is: </li></ul><ul><li>Familial juvenile nephronopthisis </li></ul><ul><li>ARPKD </li></ul><ul><li>ADPKD </li></ul><ul><li>Tuberous sclerosis </li></ul><ul><li>Retinal-retinal dysplasia </li></ul>