Other Cystic Kidney Diseases

Comprehensive Clinical Nephrology: Fourth Edition

Volumn , Issue , 2010, Pages 543-559

  Guay Woodford, Lisa M ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882928483     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-323-05876-6.00045-9     Document Type: Chapter

References (66)

1. Fick G, Gabow P Hereditary and acquired cystic disease of the kidney. Kidney Int 1994, 46:951-964.
2. Guay-Woodford L, Desmond R Autosomal recessive polycystic kidney disease (ARPKD): The clinical experience in North America. Pediatrics 2003, 111:1072-1080.
3. Onuchic L, Furu L, Nagasawa Y, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple IPT domains and PbH1 repeats. Am J Hum Genet 2002, 70:1305-1317.
4. Menezes F, Cai Y, Nagasawa Y, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium and cytoplasm. Kidney Int 2004, 66:1345-1355.
5. Desmet V Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 1998, 73:80-89.
6. Yoder B Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 2007, 18:1381-1388.
7. Zerres K, Becker J, Muecher G, et al. Haplotype-based prenatal diagnosis in autosomal recessive polycystic kidney disease (ARPKD). Am J Med Genet 1998, 76:137-144.
8. Bergmann C, Senderek J, Windelen E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD). Kidney Int 2005, 67:829-848.
9. Adeva M, El-Youssef M, Rossetti S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 2006, 85:1-21.
10. Davis ID, Ho M, Hupertz V, Avner ED Survival of childhood polycystic kidney disease following renal transplantation: The impact of advanced hepatobiliary disease. Pediatr Transplant 2003, 7:364-369.
11. Kerkar N, Norton K, Suchy F The hepatic fibrocystic diseases. Clin Liver Dis 2006, 10:55-71.
12. Chaumoitre K, Brun M, Cassart M, et al. Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol 2006, 28:911-917.
13. Capisonda R, Phan V, Traubuci J, et al. Autosomal recessive polycystic kidney disease: Clinical course and outcome, a single center experience. Pediatr Nephrol 2003, 18:119-126.
14. Zerres K, Senderek J, Rudnik-Schoneborn S, et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet 2004, 66:53-57.
15. Gigarel N, Frydman N, Burlet P, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online 2008, 16:152-158.
16. Sharp A, Messiaen L, Page G, et al. Comprehensive genomic analysis for PKHD1 mutations in ARPKD cohorts. J Med Genet 2005, 42:336-349.
17. Rossetti S, Harris PC Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol 2007, 18:1374-1380.
18. Seikaly M, Ho P, Emmett L, et al. Chronic renal insufficiency in children: The 2001 Annual Report of the NAPRTCS. Pediatr Nephrol 2003, 18:796-804.
19. Beaunoyer M, Snehal M, Li L, et al. Optimizing outcomes for neonatal ARPKD. Pediatr Transplant 2007, 11:267-271.
20. Sutherland SM, Alexander SR, Sarwal MM, et al. Combined liver-kidney transplantation in children: Indications and outcome. Pediatr Transplant 2008, 12:835-846.
21. Shneider B, Magid M Liver disease in autosomal recessive polycystic kidney disease. Pediatr Transplant 2005, 9:634-649.
22. Hildebrandt F, Attanasio M, Otto E Nephronophthisis: Disease mechanisms of a ciliopathy. J Am Soc Nephrol 2009, 20:23-35.
23. Saunier S, Salomon R, Antignac C Nephronophthisis. Curr Opin Genet Dev 2005, 15:324-331.
24. Ala-Mello S, Kivivuori S, Ronnholm K, et al. Mechanism underlying early anemia in children with familial juvenile nephronophthisis. Pediatr Nephrol 1996, 10:578-581.
25. Otto E, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003, 34:413-420.
26. Salomon R, Gubler M, Antignac C Nephronophthisis. Oxford Text Book of Clinical Nephrology 2005, 2325-2334. Oxford University Press, Oxford. A. Davidson, J. Cameron, J. Grunfeld (Eds.).
27. Heninger E, Otto E, Imm A, et al. Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. Am J Kidney Dis 2001, 37:1131-1139.
28. Scolari F, Caridi G, Rampoldi L, et al. Uromodulin storage diseases: Clinical aspects and mechanisms. Am J Kidney Dis 2004, 44:987-999.
29. Lens XM, Banet JF, Outeda P, Barrio-Lucia V A novel pattern of mutation in uromodulin disorders: Autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005, 46:52-57.
30. Yendt E Medullary sponge kidney. The Cystic Kidney 1990, 379-391. Kluwer, Dordrecht, Netherlands. K. Gardner, J. Bernstein (Eds.).
31. The European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315.
32. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997, 277:805-808.
33. Consugar MB, Wong WC, Lundquist PA, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008, 74:1468-1479.
34. Henske E Tuberous sclerosis and the kidney: From mesenchyme to epithelium and beyond. Pediatr Nephrol 2005, 20:854-857.
35. Curatolo P, Bombardieri R, Jozwiak S Tuberous sclerosis. Lancet 2008, 372:657-668.
36. Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: Shared disease mechanisms?. Nat Clin Pract Nephrol 2009, 5:143-156.
37. Shillingford J, Murcia N, Larson C, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A 2006, 103:5466-5471.
38. Hartman TR, Liu D, Zilfou JT, et al. The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet 2009, 18:151-163.
39. Roach ES, Gomez MR, Northrup H Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998, 13:624-628.
40. Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int 2006, 70:1777-1782.
41. Pea M, Bonetti F, Martignoni G, et al. Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: The identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 1998, 22:180-187.
42. Casper K, Donnelly LF, Chen B, Bissler JJ Tuberous sclerosis complex: Renal imaging findings. Radiology 2002, 225:451-456.
43. Sampson J, Maheshwar M, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997, 61:843-851.
44. Kwiatkowski D, Manning B Tuberous sclerosis: A GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005, 14:R1-R8.
45. Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008, 358:140-151.
46. Schillinger F, Montagnac R Chronic renal failure and its treatment in tuberous sclerosis. Nephrol Dial Transplant 1996, 11:481-485.
47. Joerger M, Koeberle D, Neumann H, Gillessen S Von Hippel-Lindau disease-a rare disease important to recognize. Onkologie 2005, 28:159-163.
48. Kaelin WG Von Hippel-Lindau disease. Annu Rev Pathol 2007, 2:145-173.
49. Eknoyan G A clinical view of simple and complex renal cysts. J Am Soc Nephrol 2009, 20:1874-1876.
50. Ravine D, Gibson RN, Donlan J, Sheffield LJ An ultrasound renal cyst prevalence survey: Specificity data for inherited renal cystic diseases. Am J Kidney Dis 1993, 22:803-807.
51. Nascimento AB, Mitchell DG, Zhang XM, et al. Rapid MR imaging detection of renal cysts: Age-based standards. Radiology 2001, 221:628-632.
52. Chin HJ, Ro H, Lee HJ, et al. The clinical significances of simple renal cyst: Is it related to hypertension or renal dysfunction?. Kidney Int 2006, 70:1468-1473.
53. Terada N, Arai Y, Kinukawa N, Terai A The 10-year natural history of simple renal cysts. Urology 2008, 71:7-11. discussion 11-12.
54. Isreal G, Bosniak M An update of the Bosniak renal cyst classification system. Urology 2005, 86:484-488.
55. Novick A, Campbell S Renal tumors. Campbell's Urology 2002, 2672-2731. WB Saunders, Philadelphia. 8th ed. P. Walsh, A. Retik, E. Vaughan, A.J. Wein (Eds.).
56. Silver IM, Boag AH, Soboleski DA Best cases from the AFIP: Multilocular cystic renal tumor: Cystic nephroma. Radiographics 2008, 28:1221-1225. discussion 1225-1226.
57. Josh VV, Beckwith JB Multilocular cyst of the kidney (cystic nephroma) and cystic, partially differentiated nephroblastoma. Terminology and criteria for diagnosis. Cancer 1989, 64:466-479.
58. Honma I, Takagi Y, Shigyo M, et al. Lymphangioma of the kidney. Int J Urol 2002, 9:178-182.
59. Varela JR, Bargiela A, Requejo I, et al. Bilateral renal lymphangiomatosis: US and CT findings. Eur Radiol 1998, 8:230-231.
60. Ozmen M, Deren O, Akata D, et al. Renal lymphangiomatosis during pregnancy: Management with percutaneous drainage. Eur Radiol 2001, 11:37-40.
61. Bernstein J Glomerulocystic kidney disease-nosological considerations. Pediatr Nephrol 1993, 7:464-470.
62. Sharp C, Bergman S, Stockwin J, et al. Dominantly-inherited glomerulocystic kidney disease: A distinct genetic entity. J Am Soc Nephrol 1997, 8:77-84.
63. Bisceglia M, Galliani C, Senger C, et al. Renal cystic diseases: A review. Adv Anat Pathol 2006, 13:26-56.
64. Bingham C, Hattersley A Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1b. Nephrol Dial Transplant 2004, 19:2703-2708.
65. Torres V, Young W, Offord K, Hattery R Association of hypokalemia, aldosteronism, and renal cysts. N Engl J Med 1990, 322:345-351.
66. Friedrich C Genotype-phenotype correlations in von Hippel-Lindau syndrome. Hum Mol Genet 2001, 10:763-767.