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Erschienen in: Pediatric Nephrology 10/2010

01.10.2010 | Educational Review

Glomerulocystic kidney disease

verfasst von: John J. Bissler, Brian J. Siroky, Hong Yin

Erschienen in: Pediatric Nephrology | Ausgabe 10/2010

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Abstract

Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to glomerulocystic disease, emphasizing the importance of transcriptional choreography between renal development and renal cystic disease.
Literatur
1.
Zurück zum Zitat Roos A (1941) Polycystic kidney: report of a case studied by reconstruction. Am J Dis Child 61:116–127 Roos A (1941) Polycystic kidney: report of a case studied by reconstruction. Am J Dis Child 61:116–127
2.
Zurück zum Zitat Bialestock D (1960) Anaemia of renal origin, studied by microdissection of the kidney. Austr Annal Med 9:44–52 Bialestock D (1960) Anaemia of renal origin, studied by microdissection of the kidney. Austr Annal Med 9:44–52
4.
Zurück zum Zitat Taxy JB, Filmer RB (1976) Glomerulocystic kidney. Report of a case. Arch Pathol Lab Med 100:186–188PubMed Taxy JB, Filmer RB (1976) Glomerulocystic kidney. Report of a case. Arch Pathol Lab Med 100:186–188PubMed
5.
Zurück zum Zitat Bernstein J (1993) Glomerulocystic kidney disease–nosological considerations. Pediatr Nephrol 7:464–470CrossRefPubMed Bernstein J (1993) Glomerulocystic kidney disease–nosological considerations. Pediatr Nephrol 7:464–470CrossRefPubMed
6.
Zurück zum Zitat Gupta K, Vankalakunti M, Sachdeva MU (2007) Glomerulocystic kidney disease and its rare associations: an autopsy report of two unrelated cases. Diagn Pathol 2:12CrossRefPubMed Gupta K, Vankalakunti M, Sachdeva MU (2007) Glomerulocystic kidney disease and its rare associations: an autopsy report of two unrelated cases. Diagn Pathol 2:12CrossRefPubMed
7.
Zurück zum Zitat Sharp CK, Bergman SM, Stockwin JM, Robbin ML, Galliani C, Guay-Woodford LM (1997) Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity. J Am Soc Nephrol 8:77–84PubMed Sharp CK, Bergman SM, Stockwin JM, Robbin ML, Galliani C, Guay-Woodford LM (1997) Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity. J Am Soc Nephrol 8:77–84PubMed
8.
Zurück zum Zitat Flaherty L, Bryda EC, Collins D, Rudofsky U, Montogomery JC (1995) New mouse model for polycystic kidney disease with both recessive and dominant gene effects. Kidney Int 47:552–558CrossRefPubMed Flaherty L, Bryda EC, Collins D, Rudofsky U, Montogomery JC (1995) New mouse model for polycystic kidney disease with both recessive and dominant gene effects. Kidney Int 47:552–558CrossRefPubMed
9.
Zurück zum Zitat Lu W, Fan X, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG, Zhou J (1999) Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Nat Genet 21:160–161CrossRefPubMed Lu W, Fan X, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG, Zhou J (1999) Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Nat Genet 21:160–161CrossRefPubMed
10.
Zurück zum Zitat Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ (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 16:3188–3196CrossRefPubMed Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ (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 16:3188–3196CrossRefPubMed
11.
Zurück zum Zitat Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P (2008) Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum Mol Genet 17:1578–1590CrossRefPubMed Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P (2008) Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Hum Mol Genet 17:1578–1590CrossRefPubMed
12.
Zurück zum Zitat Krous HF, Richie JP, Sellers B (1977) Glomerulocystic kidney. A hypothesis of origin and pathogenesis. Arch Pathol Lab Med 101:462–463PubMed Krous HF, Richie JP, Sellers B (1977) Glomerulocystic kidney. A hypothesis of origin and pathogenesis. Arch Pathol Lab Med 101:462–463PubMed
13.
Zurück zum Zitat Emma F, Muda AO, Rinaldi S, Boldrini R, Bosman C, Rizzoni G (2001) Acquired glomerulocystic kidney disease following hemolytic uremic syndrome. Pediatr Nephrol 16:557–560CrossRefPubMed Emma F, Muda AO, Rinaldi S, Boldrini R, Bosman C, Rizzoni G (2001) Acquired glomerulocystic kidney disease following hemolytic uremic syndrome. Pediatr Nephrol 16:557–560CrossRefPubMed
14.
Zurück zum Zitat Inglis K (1950) Neurilemmoblastomatosis. The influence of intrinsic factors in disease when development of the body is abnormal. Am J Pathol 26:521–549PubMed Inglis K (1950) Neurilemmoblastomatosis. The influence of intrinsic factors in disease when development of the body is abnormal. Am J Pathol 26:521–549PubMed
15.
Zurück zum Zitat Bernstein J, Robbins TO (1991) Renal involvement in tuberous sclerosis. Ann N Y Acad Sci 615:36–49CrossRefPubMed Bernstein J, Robbins TO (1991) Renal involvement in tuberous sclerosis. Ann N Y Acad Sci 615:36–49CrossRefPubMed
16.
Zurück zum Zitat Bernstein J (1993) Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 7:490–495CrossRefPubMed Bernstein J (1993) Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 7:490–495CrossRefPubMed
17.
Zurück zum Zitat 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 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.
Zurück zum Zitat Potter E (1952) Pathology of the fetus and the newborn. Year Book Medical, Chicago Potter E (1952) Pathology of the fetus and the newborn. Year Book Medical, Chicago
19.
Zurück zum Zitat Ferrus A, Garcia-Bellido A (1976) Morphogenetic mutants detected in mitotic recombination clones. Nature 260:425–426CrossRefPubMed Ferrus A, Garcia-Bellido A (1976) Morphogenetic mutants detected in mitotic recombination clones. Nature 260:425–426CrossRefPubMed
20.
Zurück zum Zitat Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ (2009) Renal involvement in tuberous sclerosis complex and von Hippel–Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol 5:143–156CrossRefPubMed Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ (2009) Renal involvement in tuberous sclerosis complex and von Hippel–Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol 5:143–156CrossRefPubMed
21.
Zurück zum Zitat Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 8:328–332CrossRefPubMed Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 8:328–332CrossRefPubMed
22.
Zurück zum Zitat Sampson JR, Harris PC (1994) The molecular genetics of tuberous sclerosis. Hum Mol Genet 3:1477–1480PubMed Sampson JR, Harris PC (1994) The molecular genetics of tuberous sclerosis. Hum Mol Genet 3:1477–1480PubMed
23.
Zurück zum Zitat Gullerova M, Proudfoot NJ (2008) Cohesin complex promotes transcriptional termination between convergent genes in S. pombe. Cell 132:983–995CrossRefPubMed Gullerova M, Proudfoot NJ (2008) Cohesin complex promotes transcriptional termination between convergent genes in S. pombe. Cell 132:983–995CrossRefPubMed
24.
Zurück zum Zitat Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L (2009) Immature renal structures associated with a novel UMOD sequence variant. Am J Kidney Dis 53:327–331CrossRefPubMed Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L (2009) Immature renal structures associated with a novel UMOD sequence variant. Am J Kidney Dis 53:327–331CrossRefPubMed
25.
Zurück zum Zitat Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F (2003) Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 64:1580–1587CrossRefPubMed Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F (2003) Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 64:1580–1587CrossRefPubMed
26.
Zurück zum Zitat Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H (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 82:959–970CrossRefPubMed Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H (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 82:959–970CrossRefPubMed
27.
Zurück zum Zitat Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (2001) Mutations in the hepatocyte nuclear factor–1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219–224CrossRefPubMed Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (2001) Mutations in the hepatocyte nuclear factor–1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219–224CrossRefPubMed
28.
Zurück zum Zitat Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT (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 23:1301–1306CrossRefPubMed Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT (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 23:1301–1306CrossRefPubMed
30.
Zurück zum Zitat Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST (2009) Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 111:p39–p53CrossRefPubMed Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST (2009) Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 111:p39–p53CrossRefPubMed
31.
Zurück zum Zitat Gherman A, Davis EE, Katsanis N (2006) The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 38:961–962CrossRefPubMed Gherman A, Davis EE, Katsanis N (2006) The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 38:961–962CrossRefPubMed
32.
Zurück zum Zitat Mans DA, Voest EE, Giles RH (2008) All along the watchtower: is the cilium a tumor suppressor organelle? Biochim Biophys Acta 1786:114–125PubMed Mans DA, Voest EE, Giles RH (2008) All along the watchtower: is the cilium a tumor suppressor organelle? Biochim Biophys Acta 1786:114–125PubMed
33.
Zurück zum Zitat Siroky BJ, Ferguson WB, Fuson AL, Xie Y, Fintha A, Komlosi P, Yoder BK, Schwiebert EM, Guay-Woodford LM, Bell PD (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–F1328CrossRefPubMed Siroky BJ, Ferguson WB, Fuson AL, Xie Y, Fintha A, Komlosi P, Yoder BK, Schwiebert EM, Guay-Woodford LM, Bell PD (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–F1328CrossRefPubMed
34.
Zurück zum Zitat Weimbs T (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–F1432CrossRefPubMed Weimbs T (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–F1432CrossRefPubMed
35.
Zurück zum Zitat Yoder BK (2007) Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 18:1381–1388CrossRefPubMed Yoder BK (2007) Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 18:1381–1388CrossRefPubMed
36.
Zurück zum Zitat Hossain Z, Ali SM, Ko HL, Xu J, Ng CP, Guo K, Qi Z, Ponniah S, Hong W, Hunziker W (2007) Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1. Proc Natl Acad Sci USA 104:1631–1636CrossRefPubMed Hossain Z, Ali SM, Ko HL, Xu J, Ng CP, Guo K, Qi Z, Ponniah S, Hong W, Hunziker W (2007) Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1. Proc Natl Acad Sci USA 104:1631–1636CrossRefPubMed
37.
Zurück zum Zitat Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM (2009) Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol 29:2556–2569CrossRefPubMed Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM (2009) Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol 29:2556–2569CrossRefPubMed
38.
Zurück zum Zitat Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628–633CrossRefPubMed Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628–633CrossRefPubMed
39.
Zurück zum Zitat Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG (2007) A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med 13:1490–1495CrossRefPubMed Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG (2007) A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med 13:1490–1495CrossRefPubMed
40.
Zurück zum Zitat Hiesberger T, Bai Y, Shao X, McNally BT, Sinclair AM, Tian X, Somlo S, Igarashi P (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 113:814–825PubMed Hiesberger T, Bai Y, Shao X, McNally BT, Sinclair AM, Tian X, Somlo S, Igarashi P (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 113:814–825PubMed
41.
Zurück zum Zitat Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M (2004) A transcriptional network in polycystic kidney disease. EMBO J 23:1657–1668CrossRefPubMed Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M (2004) A transcriptional network in polycystic kidney disease. EMBO J 23:1657–1668CrossRefPubMed
42.
Zurück zum Zitat Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S (2006) Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet 15:2363–2375CrossRefPubMed Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S (2006) Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet 15:2363–2375CrossRefPubMed
43.
Zurück zum Zitat Attar R, Quinn F, Winyard PJ, Mouriquand PD, Foxall P, Hanson MA, Woolf AS (1998) Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys. Am J Pathol 152:1225–1235PubMed Attar R, Quinn F, Winyard PJ, Mouriquand PD, Foxall P, Hanson MA, Woolf AS (1998) Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys. Am J Pathol 152:1225–1235PubMed
44.
Zurück zum Zitat Dressler GR, Woolf AS (1999) Pax2 in development and renal disease. Int J Dev Biol 43:463–468PubMed Dressler GR, Woolf AS (1999) Pax2 in development and renal disease. Int J Dev Biol 43:463–468PubMed
45.
Zurück zum Zitat Wang L, Weidenfeld R, Verghese E, Ricardo SD, Deane JA (2008) Alterations in renal cilium length during transient complete ureteral obstruction in the mouse. J Anat 213:79–85CrossRefPubMed Wang L, Weidenfeld R, Verghese E, Ricardo SD, Deane JA (2008) Alterations in renal cilium length during transient complete ureteral obstruction in the mouse. J Anat 213:79–85CrossRefPubMed
46.
Zurück zum Zitat Arhan E, Yusufoglu AM, Sayli TR (2009) Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr 168:995–998CrossRefPubMed Arhan E, Yusufoglu AM, Sayli TR (2009) Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr 168:995–998CrossRefPubMed
47.
Zurück zum Zitat Langer LO Jr, Nishino R, Yamaguchi A, Ito Y, Ueke T, Togari H, Kato T, Opitz JM, Gilbert EF (1983) Brachymesomelia-renal syndrome. Am J Med Genet 15:57–65CrossRefPubMed Langer LO Jr, Nishino R, Yamaguchi A, Ito Y, Ueke T, Togari H, Kato T, Opitz JM, Gilbert EF (1983) Brachymesomelia-renal syndrome. Am J Med Genet 15:57–65CrossRefPubMed
48.
Zurück zum Zitat Sibley RK, Mahan J, Mauer SM, Vernier RL (1985) A clinicopathologic study of forty-eight infants with nephrotic syndrome. Kidney Int 27:544–552CrossRefPubMed Sibley RK, Mahan J, Mauer SM, Vernier RL (1985) A clinicopathologic study of forty-eight infants with nephrotic syndrome. Kidney Int 27:544–552CrossRefPubMed
49.
Zurück zum Zitat Ariel I, Wells TR, Landing BH, Singer DB (1991) The urinary system in Down syndrome: a study of 124 autopsy cases. Pediatr Pathol 11:879–888CrossRefPubMed Ariel I, Wells TR, Landing BH, Singer DB (1991) The urinary system in Down syndrome: a study of 124 autopsy cases. Pediatr Pathol 11:879–888CrossRefPubMed
50.
Zurück zum Zitat Ivemark B, Oldfelt V, Zetterstrom R (1959) Familial dysplasia of kidneys, liver, and pancreas: a probably genetically determined syndrome. Acta Pediatr Scand 48:1–11CrossRef Ivemark B, Oldfelt V, Zetterstrom R (1959) Familial dysplasia of kidneys, liver, and pancreas: a probably genetically determined syndrome. Acta Pediatr Scand 48:1–11CrossRef
51.
Zurück zum Zitat Harkin JC, Gill WL, Shapira E (1986) Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney. Arch Pathol Lab Med 110:399–401PubMed Harkin JC, Gill WL, Shapira E (1986) Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney. Arch Pathol Lab Med 110:399–401PubMed
52.
Zurück zum Zitat Marden PM, Walker WA (1966) A new generalized connective tissue syndrome. Am J Dis Child 112:225–228PubMed Marden PM, Walker WA (1966) A new generalized connective tissue syndrome. Am J Dis Child 112:225–228PubMed
53.
Zurück zum Zitat Tory K, Rousset-Rouviere C, Gubler MC, Moriniere V, Pawtowski A, Becker C, Guyot C, Gie S, Frishberg Y, Nivet H, Deschenes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R (2009) Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int 75:839–847CrossRefPubMed Tory K, Rousset-Rouviere C, Gubler MC, Moriniere V, Pawtowski A, Becker C, Guyot C, Gie S, Frishberg Y, Nivet H, Deschenes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R (2009) Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int 75:839–847CrossRefPubMed
54.
Zurück zum Zitat Feather SA, Winyard PJ, Dodd S, Woolf AS (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 12:1354–1361CrossRefPubMed Feather SA, Winyard PJ, Dodd S, Woolf AS (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 12:1354–1361CrossRefPubMed
55.
Zurück zum Zitat Montemarano H, Bulas DI, Chandra R, Tifft C (1995) Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type. Pediatr Radiol 25:469–471CrossRefPubMed Montemarano H, Bulas DI, Chandra R, Tifft C (1995) Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type. Pediatr Radiol 25:469–471CrossRefPubMed
56.
Zurück zum Zitat Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 23:869–901CrossRefPubMed Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 23:869–901CrossRefPubMed
58.
Zurück zum Zitat Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269CrossRefPubMed Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269CrossRefPubMed
59.
Zurück zum Zitat Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG (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 70:1305–1317CrossRefPubMed Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG (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 70:1305–1317CrossRefPubMed
60.
Zurück zum Zitat Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet 39:727–729CrossRefPubMed Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet 39:727–729CrossRefPubMed
61.
Zurück zum Zitat Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA (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 14:680–689CrossRefPubMed Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA (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 14:680–689CrossRefPubMed
62.
Zurück zum Zitat Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d’Humieres C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Genin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attie-Bitach T (2007) Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 28:523–524CrossRefPubMed Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d’Humieres C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Genin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attie-Bitach T (2007) Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 28:523–524CrossRefPubMed
63.
Zurück zum Zitat Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35CrossRefPubMed Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35CrossRefPubMed
64.
Zurück zum Zitat Kleymenova E, Ibraghimov-Beskrovnaya O, Kugoh H, Everitt J, Xu H, Kiguchi K, Landes G, Harris P, Walker C (2001) Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. Mol Cell 7:823–832CrossRefPubMed Kleymenova E, Ibraghimov-Beskrovnaya O, Kugoh H, Everitt J, Xu H, Kiguchi K, Landes G, Harris P, Walker C (2001) Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. Mol Cell 7:823–832CrossRefPubMed
65.
Zurück zum Zitat Dibella LM, Park A, Sun Z (2009) Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Hum Mol Genet 18:595–606CrossRefPubMed Dibella LM, Park A, Sun Z (2009) Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Hum Mol Genet 18:595–606CrossRefPubMed
66.
Zurück zum Zitat Weimbs T (2006) Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? Cell Cycle 5:2425–2429PubMed Weimbs T (2006) Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? Cell Cycle 5:2425–2429PubMed
67.
Zurück zum Zitat Astrinidis A, Senapedis W, Henske EP (2006) Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner. Hum Mol Genet 15:287–297CrossRefPubMed Astrinidis A, Senapedis W, Henske EP (2006) Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner. Hum Mol Genet 15:287–297CrossRefPubMed
68.
Zurück zum Zitat Pritchard L, Sloane-Stanley JA, Sharpe JA, Aspinwall R, Lu W, Buckle V, Strmecki L, Walker D, Ward CJ, Alpers CE, Zhou J, Wood WG, Harris PC (2000) A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet 9:2617–2627CrossRefPubMed Pritchard L, Sloane-Stanley JA, Sharpe JA, Aspinwall R, Lu W, Buckle V, Strmecki L, Walker D, Ward CJ, Alpers CE, Zhou J, Wood WG, Harris PC (2000) A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet 9:2617–2627CrossRefPubMed
Metadaten
Titel
Glomerulocystic kidney disease
verfasst von
John J. Bissler
Brian J. Siroky
Hong Yin
Publikationsdatum
01.10.2010
Verlag
Springer-Verlag
Erschienen in
Pediatric Nephrology / Ausgabe 10/2010
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-009-1416-2

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