Glomerulocystic kidney disease

Pediatric Nephrology

Volumn 25, Issue 10, 2010, Pages 2049-2059

  Bissler, John J ^a   Siroky, Brian J ^a   Yin, Hong ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Basal body; Cilia; Glomerulocystic kidney disease; Polycystic kidney disease; Tuberous sclerosis complex

Indexed keywords

WNT PROTEIN;

CILIOPATHY; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC DISORDER; GLOMERULOCYSTIC KIDNEY DISEASE; GLOMERULOPATHY; HUMAN; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; MATURITY ONSET DIABETES MELLITUS; MECKEL SYNDROME; MEDULLARY SPONGE KIDNEY; NEPHRONOPHTHISIS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; TUBEROUS SCLEROSIS; URINARY TRACT OBSTRUCTION;

ANIMALS; HUMANS; KIDNEY DISEASES, CYSTIC;

EID: 77956225837     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1416-2     Document Type: Review

References (68)

1. A Roos 1941 Polycystic kidney: report of a case studied by reconstruction Am J Dis Child 61 116 127
2. D Bialestock 1960 Aneamia of renal origin, studied by microdissection of the kidney Austr Annal Med 9 44 52
3. T Baxter 1965 Cysts arising in the renal corpuscle Arch Dis Child 40 455 463 10.1136/adc.40.213.455 5890413
4. JB Taxy RB Filmer 1976 Glomerulocystic kidney. Report of a case Arch Pathol Lab Med 100 186 188 989283
5. J Bernstein 1993 Glomerulocystic kidney disease-nosological considerations Pediatr Nephrol 7 464 470 10.1007/BF00857576 8398663
6. K Gupta M Vankalakunti MU Sachdeva 2007 Glomerulocystic kidney disease and its rare associations: an autopsy report of two unrelated cases Diagn Pathol 2 12 10.1186/1746-1596-2-12 17459157
7. CK Sharp SM Bergman JM Stockwin ML Robbin C Galliani LM Guay-Woodford 1997 Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity J Am Soc Nephrol 8 77 84 9013451
8. L Flaherty EC Bryda D Collins U Rudofsky JC Montogomery 1995 New mouse model for polycystic kidney disease with both recessive and dominant gene effects Kidney Int 47 552 558 10.1038/ki.1995.69 7723240
9. W Lu X Fan N Basora H Babakhanlou T Law N Rifai PC Harris AR Perez-Atayde HG Rennke J Zhou 1999 Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes Nat Genet 21 160 161 10.1038/5944 9988265
10. IS Lantinga-van Leeuwen WN Leonhard A van der Wal MH Breuning E de Heer DJ Peters 2007 Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice Hum Mol Genet 16 3188 3196 10.1093/hmg/ddm299 17932118
11. V Patel L Li P Cobo-Stark X Shao S Somlo F Lin P Igarashi 2008 Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia Hum Mol Genet 17 1578 1590 10.1093/hmg/ddn045 18263895
12. HF Krous JP Richie B Sellers 1977 Glomerulocystic kidney. A hypothesis of origin and pathogenesis Arch Pathol Lab Med 101 462 463 578105
13. F Emma AO Muda S Rinaldi R Boldrini C Bosman G Rizzoni 2001 Acquired glomerulocystic kidney disease following hemolytic uremic syndrome Pediatr Nephrol 16 557 560 10.1007/s004670100608 11465804
14. K Inglis 1950 Neurilemmoblastomatosis. The influence of intrinsic factors in disease when development of the body is abnormal Am J Pathol 26 521 549 15419283
15. J Bernstein TO Robbins 1991 Renal involvement in tuberous sclerosis Ann N Y Acad Sci 615 36 49 10.1111/j.1749-6632.1991.tb37746.x 2039157
16. J Bernstein 1993 Renal cystic disease in the tuberous sclerosis complex Pediatr Nephrol 7 490 495 10.1007/BF00857581 8398665
17. Bernstein J, Meyer R (1967) Parenchymal maldevelopment of the kidney. In: Kelley V (ed) Brennemann-Kelley practice of pediatrics. Harper, New York, pp 1-30
18. Potter E (1952) Pathology of the fetus and the newborn. Year Book Medical, Chicago
19. A Ferrus A Garcia-Bellido 1976 Morphogenetic mutants detected in mitotic recombination clones Nature 260 425 426 10.1038/260425a0 815826
20. BJ Siroky MF Czyzyk-Krzeska JJ Bissler 2009 Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol 5 143 156 10.1038/ncpneph1032 19240728
21. PT Brook-Carter B Peral CJ Ward P Thompson J Hughes MM Maheshwar M Nellist V Gamble PC Harris JR Sampson 1994 Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome Nat Genet 8 328 332 10.1038/ng1294-328 7894481
22. JR Sampson PC Harris 1994 The molecular genetics of tuberous sclerosis Hum Mol Genet 3 1477 1480 7849741
23. M Gullerova NJ Proudfoot 2008 Cohesin complex promotes transcriptional termination between convergent genes in S. pombe Cell 132 983 995 10.1016/j.cell.2008.02.040 18358811
24. E Benetti G Caridi MD Vella L Rampoldi GM Ghiggeri L Artifoni L Murer 2009 Immature renal structures associated with a novel UMOD sequence variant Am J Kidney Dis 53 327 331 10.1053/j.ajkd.2008.08.020 18950917
25. MT Wolf BE Mucha M Attanasio I Zalewski SM Karle HP Neumann N Rahman B Bader CA Baldamus E Otto R Witzgall A Fuchshuber F Hildebrandt 2003 Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains Kidney Int 64 1580 1587 10.1046/j.1523-1755.2003.00269.x 14531790
26. C Bergmann M Fliegauf NO Bruchle V Frank H Olbrich J Kirschner B Schermer I Schmedding A Kispert B Kranzlin G Nurnberg C Becker T Grimm G Girschick SA Lynch P Kelehan J Senderek TJ Neuhaus T Stallmach H Zentgraf P Nurnberg N Gretz C Lo S Lienkamp T Schafer G Walz T Benzing K Zerres H Omran 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia Am J Hum Genet 82 959 970 10.1016/j.ajhg.2008.02.017 18371931
27. C Bingham MP Bulman S Ellard LI Allen GW Lipkin WG Hoff AS Woolf G Rizzoni G Novelli AJ Nicholls AT Hattersley 2001 Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease Am J Hum Genet 68 219 224 10.1086/316945 11085914
28. EL Edghill C Bingham AS Slingerland JA Minton C Noordam S Ellard AT Hattersley 2006 Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development Diabet Med 23 1301 1306 10.1111/j.1464-5491.2006.01999.x 17116179
29. JP Calvet 2003 Ciliary signaling goes down the tubes Nat Genet 33 113 114 10.1038/ng1078 12514736
30. IR Veland A Awan LB Pedersen BK Yoder ST Christensen 2009 Primary cilia and signaling pathways in mammalian development, health and disease Nephron Physiol 111 p39 p53 10.1159/000208212 19276629
31. A Gherman EE Davis N Katsanis 2006 The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia Nat Genet 38 961 962 10.1038/ng0906-961 16940995
32. DA Mans EE Voest RH Giles 2008 All along the watchtower: is the cilium a tumor suppressor organelle? Biochim Biophys Acta 1786 114 125 18343234
33. BJ Siroky WB Ferguson AL Fuson Y Xie A Fintha P Komlosi BK Yoder EM Schwiebert LM Guay-Woodford PD Bell 2006 Loss of primary cilia results in deregulated and unabated apical calcium entry in ARPKD collecting duct cells Am J Physiol Renal Physiol 290 F1320 F1328 10.1152/ajprenal.00463.2005 16396941
34. T Weimbs 2007 Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1 Am J Physiol Renal Physiol 293 F1423 F1432 10.1152/ajprenal.00275.2007 17715262
35. BK Yoder 2007 Role of primary cilia in the pathogenesis of polycystic kidney disease J Am Soc Nephrol 18 1381 1388 10.1681/ASN.2006111215 17429051
36. Z Hossain SM Ali HL Ko J Xu CP Ng K Guo Z Qi S Ponniah W Hong W Hunziker 2007 Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1 Proc Natl Acad Sci USA 104 1631 1636 10.1073/pnas.0605266104 17251353
37. HS Kang JY Beak YS Kim R Herbert AM Jetten 2009 Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease Mol Cell Biol 29 2556 2569 10.1128/MCB.01620-08 19273592
38. SJ Ansley JL Badano OE Blacque J Hill BE Hoskins CC Leitch JC Kim AJ Ross ER Eichers TM Teslovich AK Mah RC Johnsen JC Cavender RA Lewis MR Leroux PL Beales N Katsanis 2003 Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome Nature 425 628 633 10.1038/nature02030 14520415
39. K Piontek LF Menezes MA Garcia-Gonzalez DL Huso GG Germino 2007 A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1 Nat Med 13 1490 1495 10.1038/nm1675 17965720
40. T Hiesberger Y Bai X Shao BT McNally AM Sinclair X Tian S Somlo P Igarashi 2004 Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice J Clin Invest 113 814 825 15067314
41. L Gresh E Fischer A Reimann M Tanguy S Garbay X Shao T Hiesberger L Fiette P Igarashi M Yaniv M Pontoglio 2004 A transcriptional network in polycystic kidney disease EMBO J 23 1657 1668 10.1038/sj.emboj.7600160 15029248
42. C Haumaitre M Fabre S Cormier C Baumann AL Delezoide S Cereghini 2006 Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations Hum Mol Genet 15 2363 2375 10.1093/hmg/ddl161 16801329
43. R Attar F Quinn PJ Winyard PD Mouriquand P Foxall MA Hanson AS Woolf 1998 Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys Am J Pathol 152 1225 1235 9588891
44. GR Dressler AS Woolf 1999 Pax2 in development and renal disease Int J Dev Biol 43 463 468 10535325
45. L Wang R Weidenfeld E Verghese SD Ricardo JA Deane 2008 Alterations in renal cilium length during transient complete ureteral obstruction in the mouse J Anat 213 79 85 10.1111/j.1469-7580.2008.00918.x 18537851
46. E Arhan AM Yusufoglu TR Sayli 2009 Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report Eur J Pediatr 168 995 998 10.1007/s00431-008-0860-5 18972129
47. LO Langer Jr R Nishino A Yamaguchi Y Ito T Ueke H Togari T Kato JM Opitz EF Gilbert 1983 Brachymesomelia-renal syndrome Am J Med Genet 15 57 65 10.1002/ajmg.1320150107 6859124
48. RK Sibley J Mahan SM Mauer RL Vernier 1985 A clinicopathologic study of forty-eight infants with nephrotic syndrome Kidney Int 27 544 552 10.1038/ki.1985.45 3999542
49. I Ariel TR Wells BH Landing DB Singer 1991 The urinary system in Down syndrome: a study of 124 autopsy cases Pediatr Pathol 11 879 888 10.3109/15513819109065484 1837925
50. B Ivemark V Oldfelt R Zetterstrom 1959 Familial dysplasia of kidneys, liver, and pancreas: a probably genetically determined syndrome Acta Pediatr Scand 48 1 11 10.1111/j.1651-2227.1959.tb16011.x
51. JC Harkin WL Gill E Shapira 1986 Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney Arch Pathol Lab Med 110 399 401 3754423
52. PM Marden WA Walker 1966 A new generalized connective tissue syndrome Am J Dis Child 112 225 228 5945535
53. K Tory C Rousset-Rouviere MC Gubler V Moriniere A Pawtowski C Becker C Guyot S Gie Y Frishberg H Nivet G Deschenes P Cochat MF Gagnadoux S Saunier C Antignac R Salomon 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis Kidney Int 75 839 847 10.1038/ki.2008.662 19177160
54. SA Feather PJ Winyard S Dodd AS Woolf 1997 Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred Nephrol Dial Transplant 12 1354 1361 10.1093/ndt/12.7.1354 9249769
55. H Montemarano DI Bulas R Chandra C Tifft 1995 Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type Pediatr Radiol 25 469 471 10.1007/BF02019070 7491205
56. RI Kelley NS Datta WB Dobyns AK Hajra AB Moser MJ Noetzel EH Zackai HW Moser 1986 Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes Am J Med Genet 23 869 901 10.1002/ajmg.1320230404 3515938
57. T Watnick G Germino 2003 From cilia to cyst Nat Genet 34 355 356 10.1038/ng0803-355 12923538
58. CJ Ward MC Hogan S Rossetti D Walker T Sneddon X Wang V Kubly JM Cunningham R Bacallao M Ishibashi DS Milliner VE Torres PC Harris 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 259 269 10.1038/ng833 11919560
59. LF Onuchic L Furu Y Nagasawa X Hou T Eggermann Z Ren C Bergmann J Senderek E Esquivel R Zeltner S Rudnik-Schoneborn M Mrug W Sweeney ED Avner K Zerres LM Guay-Woodford S Somlo GG Germino 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Am J Hum Genet 70 1305 1317 10.1086/340448 11898128
60. PL Beales E Bland JL Tobin C Bacchelli B Tuysuz J Hill S Rix CG Pearson M Kai J Hartley C Johnson M Irving N Elcioglu M Winey M Tada PJ Scambler 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy Nat Genet 39 727 729 10.1038/ng2038 17468754
61. L Romio V Wright K Price PJ Winyard D Donnai ME Porteous B Franco G Giorgio S Malcolm AS Woolf SA Feather 2003 OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells J Am Soc Nephrol 14 680 689 10.1097/01.ASN.0000054497.48394.D2 12595504
62. R Khaddour U Smith L Baala J Martinovic D Clavering R Shaffiq C Ozilou A Cullinane M Kyttala S Shalev S Audollent C d'Humieres N Kadhom C Esculpavit G Viot C Boone C Oien F Encha-Razavi PA Batman CP Bennett CG Woods J Roume S Lyonnet E Genin M Le Merrer A Munnich MC Gubler P Cox F Macdonald M Vekemans CA Johnson T Attie-Bitach 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online Hum Mutat 28 523 524 10.1002/humu.9489 17397051
63. F Hildebrandt M Attanasio E Otto 2009 Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 23 35 10.1681/ASN.2008050456 19118152
64. E Kleymenova O Ibraghimov-Beskrovnaya H Kugoh J Everitt H Xu K Kiguchi G Landes P Harris C Walker 2001 Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene Mol Cell 7 823 832 10.1016/S1097-2765(01)00226-X 11336705
65. LM Dibella A Park Z Sun 2009 Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway Hum Mol Genet 18 595 606 10.1093/hmg/ddn384 19008302
66. T Weimbs 2006 Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? Cell Cycle 5 2425 2429 17102641
67. A Astrinidis W Senapedis EP Henske 2006 Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner Hum Mol Genet 15 287 297 10.1093/hmg/ddi444 16339216
68. L Pritchard JA Sloane-Stanley JA Sharpe R Aspinwall W Lu V Buckle L Strmecki D Walker CJ Ward CE Alpers J Zhou WG Wood PC Harris 2000 A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype Hum Mol Genet 9 2617 2627 10.1093/hmg/9.18.2617 11063721