The Journal of Pediatrics
Volume 149, Issue 2 , Pages 159-164 , August 2006

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference

References 

  1. Zerres K , Rudnik-Schoneborn S , Deget F , Holtkamp U , Brodehl J , Geisert J , et al.   Clinical course of 115 children with autosomal recessive polycystic kidney disease . Acta Pediatr . 1996;85:437–445
  2. Capisonda R , Phan V , Traubuci J , Daneman A , Balfe JW , Guay-Woodford LM . Autosomal recessive polycystic kidney disease (outcomes from a single-center experience) . Pediatr Nephrol . 2003;18:119–126
  3. Onuchic LF , Furu L , Nagasawa Y , Hou X , Eggermann T , Ren Z , et al.   PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immuneglobulin-like plexin transcription factor domain and parallel beta-helix 1 repeats . Am J Hum Genet . 2002;70:1305–1317
  4. Ward CJ , Hogan MC , Rossetti S , Walker D , Sneddon T , Wang X , et al.   The gene mutated in autosomal recessive polycystic kidney disease encodes a large receptor-like protein . Nat Genet . 2002;30:259–269
  5. Bergmann C , Senderek J , Windelen E , Kupper F , Middeldorf I , Schneider F , et al.   Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) . Kidney Int . 2005;67:829–848
  6. Ward CJ , Yuan D , Masyuk TV , Wang X , Punyashthiti R , Whelan S , et al.   Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia . Hum Mol Genet . 2003;12:2703–2710
  7. Desmet VJ . Pathogenesis of ductal plate abnormalities . Mayo Clinic Proc . 1998;73:80–89
  8. Roy S , Dillon MJ , Trompeter RS , Barrat TM . Autosomal recessive polycystic kidney disease (long-term outcome of neonatal survivors) . Pediatr Nephrol . 1997;11:302–306
  9. Summerfield JA , Nagafuchi Y , Sherlock S , Canafalch J , Scheuer PJ . Hepatobiliary fibropolycystic disease (a clinical and histological review of 51 patients) . J Hepatol . 1986;2:141–156
  10. Sharp AM , Messiaen LM , Page G , Antignac C , Gubler MC , Onuchic LF , et al.   Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts . J Med Genet . 2005;42:336–349
  11. Consugar MB , Anderson SA , Rosetti S , Pankratz VS , Ward CJ , Torra R , et al.   Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease . Am J Kidney Dis . 2005;45:77–87
  12. Zerres K , Senderek J , Rudnik-Schoneborn S , Eggermann T , Kunze J , Mononen T , 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
  13. Wang S , Luo Y , Wilson PD , Witman GB , Zhou J . The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area . J Am Soc Nephrol . 2004;15:592–602
  14. Anyatonwu GI , Ehrlich BE . Calcium signaling and polycystin-2 . Biochem Biophys Res Commun . 2004;322:1364–1373
  15. Nagano J , Kitamura K , Hujer KM , Ward CJ , Bram RJ , Hopfer U , et al.   Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling . Biochem Biophys Res Commun . 2005;338:880–889
  16. Wilson PD . Polycystic kidney disease . N Engl J Med . 2004;350:151–164
  17. Torres VE , Harris PC . Mechanism of disease (autosomal dominant and recessive polycystic kidney diseases) . Nature Clinical Practice Nephrology . 2006;2:40–55
  18. Nauli SM , Alenghat FJ , Luo Y , Williams E , Vassilev P , Li Xiaogang  , et al.   Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells . Nat Genet . 2003;33:129–137
  19. Simons M , Gloy J , Ganner A , Bullerkotte A , Bashkurov M , Kronig C , et al.   Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways . Nat Genet . 2005;3:537–543
  20. Delmas P . Polycystins (polymodal receptor/ion-channel cellular sensors) . Pflugers Arch . 2005;451:264–276
  21. MacRae Dell K , Nemo R , Sweeney WE , Avner ED . EGF-related growth factors in the pathogenesis of murine ARPKD . Kidney Int . 2004;65:2018–2029
  22. Torres V . Cyclic AMP, at the hub of the cystic cycle . Kidney Int . 2004;64:1283–1285
  23. Kaplan BS , Kaplan P , Chadarevian J-P , Jequier S , O’Regan S , Russo P . Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family . Am J Med Genet . 1988;29:639–647
  24. Mrug M , Li R , Cui X , Schoeb TR , Churchill GA , Guay-Woodford LM . Kinesin family member 12 is a candidate polycystic kidney disease modifier in the cpk mouse . J Am Soc Nephrol . 2005;16:905–916
  25. Loghman-Adham M , Carlos ES , Tadashi I , Sotelo-Avila  . Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease . J Histochem Cytochem . 2005;53:979–988
  26. Rohatgi R , Zavilowitz B , Vergara M , Woda C , Kim P , Satlin LM . Cyst fluid composition in human autosomal recessive polycystic kidney disease . Pediatr Nephrol . 2005;20:552–553
  27. Olteanu D , Yoder BK , Liu W , Croyle MJ , Welty EA , Rosborough K , et al.   Heightened ENaC-mediated sodium absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia . Am J Physiol Cell Physiol. . 2005; doi:10.1152/ajpcell.00339.2005
  28. Shneider B , Magid M . Liver disease in autosomal recessive polycystic kidney disease . Pediatr Transplantation . 2005;9:634–639
  29. Goilav B, Norton K, Satlin L, Guay-Woodford L, Chen F, Magid M, et al. Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease (ARPKD): a new association. Pediatr Transplantation (in press).
  30. Davis ID , MacRae Dell K , Sweeney WE , Avner ED . Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented? . Semin Nephrol . 2001;21:430–440
  31. Gattone VH . Emerging therapies for polycystic kidney disease . Curr Opin Pharmacol . 2005;5:535–542
  32. Ranson M . Epidermal growth factor receptor tyrosine kinase inhibitors . Br J Cancer . 2004;90:2250–2255
  33. Sweeney WE , Frost P , Avner ED . Inhibition of c-Src ameliorates cyst progression in the PCK rat. Platform Presentation . Washington, DC: American Society of Pediatric Nephrology; 2005; Annual Meeting. May 14-17
  34. Hoorn EJ , Pisitkun T , Zietse R , Gross P , Frokiaer J , Wang NS , et al.   Prospects for urinary proteomics (exosomes as a source of urinary biomarkers) . Nephrology . 2005;10:283–290
  35. Foucher J , Chanteloup E , Vergniol J , Castera L , Le Bail B , Adhoute X , et al.   Diagnosis of cirrhosis by transient elastography (Fibroscan) (a prospective study) . Gut . 2006;55:403–408

 Supported in part by the Intramural Research Program of the NIH, specifically, that of the National Human Genome Research Institute, and by the Office of Rare Diseases, Office of the Director, NIH, and ARPKD/CHF Alliance.

PII: S0022-3476(06)00186-7

doi: 10.1016/j.jpeds.2006.03.014

The Journal of Pediatrics
Volume 149, Issue 2 , Pages 159-164 , August 2006

Article Tools

* Image Usage & Resolution