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Renal Cystic Disease

Renal Cystic Disease . What you thought you really didn’t need to know – but you do!. Objectives. Be able to diagnose renal cystic disease Genetic / non-genetic Be able to describe patterns of various renal cystic disease on routine imaging studies

JasminFlorian
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Renal Cystic Disease

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  1. Renal Cystic Disease What you thought you really didn’t need to know – but you do!

  2. Objectives • Be able to diagnose renal cystic disease • Genetic / non-genetic • Be able to describe patterns of various renal cystic disease on routine imaging studies • Be able to counsel patients with renal cystic disease regarding • Prognosis • Required follow-up investigations • Associated findings

  3. Genetic Renal Cystic Disease • ARPKD (Autosomal Recessive PKD) • ADPKD (Autosomal Dominant PKD) • Juvenile Nephronophthisis – Medullary CD • Juvenile Nephronophthisis (autosomal recessive) • Medullary Cystic Disease (autosomal dominant) • Congenital Nephrosis (autosomal recessive) • Familial Hypoplastic Glomerulocystic Disease (autosomal dominant) • Others – e.g. Cystic Fibrosis, VHL

  4. Non-Genetic Renal Cystic Disease • Multicystic Dysplastic Kidney • Benign Multilocular Cyst (Cystic Nephroma) • Simple Cysts – Bosniak Classification • Medullary Sponge Kidney • Sporadic Glomerulocystic Kidney Disease • Acquired Renal Cystic Disease • Calyceal Diverticulum • Cystic Renal Cell Carcinoma

  5. Autosomal Recessive Polycystic Kidney Disease • Appears early (antenatal diagnosis) • Echogenic but homogenous kidneys on U/S due to small cysts throughout parenchyma • Usually fatal within months • Associated with hepatic fibrosis - biliary ectasia, periportal fibrosis • Mutation of PKHD1 gene on Cr 6 • Large kidneys, sponge

  6. CT - ARPKD

  7. Fetus with ARPKD

  8. ARPKD

  9. ARPKD

  10. Micro- ARPKD

  11. Autosomal Dominant Polycystic Kidney Disease • Common cause of ESRD (7-15%) • May present in newborn but most common presentation 30-50 years • Two (?3) genes identified – PKD1, PKD2 • PKD1(Cr 16) – more hypertension, infections – younger age at presentation, onset of renal failure • PKD2 (Cr 4) – older at presentation

  12. ADPKD - Presentation • Age 30-50 • Hypertension • Renin mediated • Microscopic/ Gross hematuria • Flank pain • Stones in 20-30 % • GI symptoms • Incidental finding of liver/kidney cysts on U/S • Berry aneurysm (10 –40%)

  13. ADPKD - Etiology • Loss of polarity of epithelial cells anywhere in nephron • Cell proliferation – outpouching, collection of tubular fluid • Histology • Cysts variable in size – from mm to several cm. • Association with RCC • No increased risk

  14. ADPKD – Evaluation • Diagnosis (in absence of positive family history) • Presence of bilateral cysts with at least 2 of: • Bilateral renal enlargement • 3 or more hepatic cysts • Cerebral artery aneurysm • Cysts of arachnoid, pineal, pancreas, spleen

  15. U/S – Right Kidney

  16. U/S – Right Kidney

  17. U/S Left Kidney

  18. CT – ADPKD

  19. CT – ADPKD

  20. ADPKD

  21. ADPKD

  22. ADPKD

  23. ADPKD - Treatment • Role of genetic counselling • Role of hypertension management • Risk of infection • Avoid nephrotoxins • Management of pain – medical vs surgical • Role for unroofing cysts • Management of meganephrosis

  24. Juvenile Nephronophthisis/ Medullary Cystic Disease • Juvenile Nephronophthisis • Usually autosomal recessive • 3 types – juvenile (NPH1), adolescent (NPH2), infertile (NPH3) genes • Presentation mean age 13 – renal failure • Medullary Cystic Disease • Usually autosomal dominant • Older age at presentation (20-40)

  25. Juvenile Nephronophthisis/ Medullary Cystic Disease • Presentation • Polydipsia / polyuria in more than 80% (not to the degree of patients with DI) resistant to vasopressin • Polyuria due to inability to conserve sodium – so salt restriction not indicated in these patients • Salt losing nephropathy • Associated with retinal disorders (retinitis pigmentosa), skeletal abnormalities, hepatic fibrosis • Various syndromes associated with JN (Bardet-Beidl, Senior-Loken, Alstroms)

  26. JN/MCD Complex • Histology • Interstitial nephritis leading to atrophy • Cysts – 85% with MCD vs 40% with JN • Cysts at cortico-medullary junction • Cysts small 0.5 cm; • Treatment • Salt replacement • Supportive therapy

  27. Congenital Nephrosis • Finnish Type – recessive - Cr 19 • Diffuse Mesangial Sclerosis – 1/3 familial • Clinical Features • Large placenta / large kidneys • Early onset severe proteinuria leading to edema, renal failure - death

  28. Multiple Malformation Syndromes with Renal Cysts • Autosomal dominant- • von Hippel Lindau –VHL gene on Cr 3 • Tuberous Sclerosis – TSC1 on Cr 9 or TSC2 on Cr 16 • Autosomal recessive • Meckel’s Syndrome • Jeune’s Asphyxiating Thoracic Dystrophy • Zellweger’s Cerebrohepatorenal Syndrome • Ivemark’s Syndrome (renal-hepatic-pancreatic dysplasia)

  29. Multiple Malformation Syndromes with Renal Cysts • X-linked Dominant • Orofaciodigital Syndrome I • Chromosomal Disorders • Trisomy 13 (Patau) • Trisomy 18 (Edward) • Trisomy 21 (Down)

  30. Tuberous Sclerosis • Presentation • Epilepsy 80% • Mental retardation 60% • Adenoma sebaceum 75% • Cerebal hamartoma hallmark • Renal involvement • Cysts ( lined with hypertrophic hyperplastic eosinophilic cells) • Angiomyolipoma ( 40-80%) • Renal cell carcinoma (2%)

  31. von Hippel Lindau Disease • Cerebral and retinal hemangioblastoma – major cause of morbidity and mortality • Cysts • Pancreas • Kidney – 76% • Epididymis • Epididymal cystadenoma • Pheochromocystoma – 10-17% • Renal cell carcinoma -in 50%

  32. von Hippel Lindau Disease • Management • Surveillance with U/S – CT q 1-2 years • Conservative approach to renal lesions – segmental resection

  33. Non-Genetic Renal Cystic Disease • Multicystic Dysplastic Kidney • Benign Multilocular Cyst (Cystic Nephroma) • Simple Cysts • Medullary Sponge Kidney • Sporadic Glomerulocystic Kidney Disease • Acquired Renal Cystic Disease • Calyceal Diverticulum • Cystic Renal Cell Carcinoma

  34. Multicystic Dysplasia - Kidney (MCDK) • Nongenetic dysplasia presenting at birth or shortly after • Active process – so may involute, remain the same, or get larger • Monitor for 5 years • Intervention • Increase in solid tissue • Compromise of vital function • Risk of contralateral reflux - 15%

  35. MCDK

  36. MCDK

  37. MCDK – micro

  38. Follow-up No. of Children Not Identifiable Smaller Larger Unchanged 1-3 mo 140 7 (5.0%) 64 (45.7%) 16 (11.4%) 53 (37.9%) 4-66 mo 181 13 (7.2%) 119 (65.7%) 9 (5.0%) 40 (22.1%) 7-9 mo 134 13 (9.7%) 73 (54.5%) 4 (3.0%) 44 (32.0%) 10-12 mo 96 14 (14.6%) 41 (42.7%) 5 (5.2%) 36 (37.5%) 1-3 yr 622 99 (15.9%) 286 (46.0%) 26 (4.2%) 211 (33.4%) 3-5 yr 183 42 (22.9%) 63 (34.4%) 10 (5.5%) 68 (37.2%) >5 yr 159 38 (23.9%) 60 (37.7%) 2 (1.3%) 59 (37.1%) National MCDK Registry – U/S Follow-up

  39. Medullary Sponge Kidney • Noninheritable condition – usually incidental finding • Due to dilated collecting ducts – “blush” in papillae on IV contrast studies • Increased risk of • Nephrolithiasis (50-60%) • Hypercalciuria (at least 33%) • Urinary tract Infection (20-33%) • Hematuria (0-18%)

  40. MSL – Microscopic

  41. Cast of MSK Kidney

  42. Acquired Renal Cystic Disease • Associated with ESRD – patients on Hemodialysis • Hyperplastic renal cysts – increased risk of progression to RCC within 10 years of starting dialysis • Cysts may regress with transplantation

  43. Acquired Cystic Disease Patient on Hemodialysis

  44. Acquired Renal Cystic Disease

  45. Category I Simple benign cyst with (1) good through- transmission (i.e., acoustic enhancement), (2) no echoes within the cyst, (3) sharply, marginated smooth wall; requires no surgery. Category II Looks benign with some radiologic concerns including septation, minimal calcification, and high density; requires no surgery. Category II F Although calcification in wall of cyst may even be thicker and more nodular than in category II, the septa have minimal enhancement, especially those with calcium; requires no surgery. Category III More complicated lesion that cannot confidently be distinguished from malignancy, having more calcification, more prominent septation of a thicker wall than a category II lesion; more likely to be benign than malignant; requires surgical exploration and/or removal. Category IV Clearly a malignant lesion with large cystic components, irregular margins; solid vascular elements; requires surgical removal. Bosniak Classification of Incidental Renal Cysts

  46. Bosniak IIF

  47. Bosniak IIF

  48. Bosniak III –non contrast

  49. Bosniak III – with contrast

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