autosomal recessive polycystic kidney

Summary

Summary: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.

Top Publications

  1. Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol. 2003;14:76-89 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21...
  2. Adeva M, El Youssef M, Rossetti S, Kamath P, Kubly V, Consugar M, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006;85:1-21 pubmed
    ..The current study indicates a broadened spectrum for the ARPKD phenotype and that later presenting cases with predominant liver disease should be considered part of ARPKD...
  3. Goto M, Hoxha N, Osman R, Wen J, Wells R, Dell K. Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2010;50:639-44 pubmed publisher
    Congenital hepatic fibrosis (CHF) is an important cause of morbidity and mortality in patients with autosomal recessive polycystic kidney disease (ARPKD). The pathogenesis of CHF remains undefined...
  4. Veizis E, Carlin C, Cotton C. Decreased amiloride-sensitive Na+ absorption in collecting duct principal cells isolated from BPK ARPKD mice. Am J Physiol Renal Physiol. 2004;286:F244-54 pubmed
  5. Muff M, Masyuk T, Stroope A, Huang B, Splinter P, Lee S, et al. Development and characterization of a cholangiocyte cell line from the PCK rat, an animal model of Autosomal Recessive Polycystic Kidney Disease. Lab Invest. 2006;86:940-50 pubmed
    In the PCK rat, a rodent model of Autosomal Recessive Polycystic Kidney Disease (ARPKD), a spontaneous splicing mutation of Pkhd1 initiates hepatic cyst development...
  6. Masyuk T, Huang B, Masyuk A, Ritman E, Torres V, Wang X, et al. Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease. Am J Pathol. 2004;165:1719-30 pubmed
    ..Our results suggest that the PCK rat is a useful model for studies of biliary cystogenesis and treatment options of inherited cystic liver disease...
  7. Lonergan G, Rice R, Suarez E. Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics. 2000;20:837-55 pubmed
    b>Autosomal recessive polycystic kidney disease is a heritable but phenotypically variable disorder characterized by varying degrees of nonobstructive renal collecting duct ectasia, hepatic biliary duct ectasia and malformation, and ..
  8. Gunay Aygun M, Tuchman M, Font Montgomery E, Lukose L, Edwards H, Garcia A, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010;99:160-73 pubmed publisher
    PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced ..
  9. Wilson P. A plethora of epidermal growth factor-like proteins in polycystic kidneys. Kidney Int. 2004;65:2441-2 pubmed

More Information

Publications63

  1. Yoder B, Richards W, Sommardahl C, Sweeney W, Michaud E, Wilkinson J, et al. Differential rescue of the renal and hepatic disease in an autosomal recessive polycystic kidney disease mouse mutant. A new model to study the liver lesion. Am J Pathol. 1997;150:2231-41 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by biliary and renal lesions that produce significant morbidity and mortality...
  2. Nauta J, Goedbloed M, Herck H, Hesselink D, Visser P, Willemsen R, et al. New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2000;11:2272-84 pubmed
  3. Phillips J, Hopwood D, Loxley R, Ghatora K, Coombes J, Tan Y, et al. Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease. Kidney Blood Press Res. 2007;30:129-44 pubmed
  4. Qin H, Rosenbaum J, Barr M. An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons. Curr Biol. 2001;11:457-61 pubmed
    ..the Caenorhabditis elegans gene osm-5 is homologous to the Chlamydomonas gene IFT88 and the mouse autosomal recessive polycystic kidney disease (ARPKD) gene, Tg737...
  5. Moyer J, Lee Tischler M, Kwon H, Schrick J, Avner E, Sweeney W, et al. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science. 1994;264:1329-33 pubmed
    ..mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease...
  6. Shneider B, Magid M. Liver disease in autosomal recessive polycystic kidney disease. Pediatr Transplant. 2005;9:634-9 pubmed
    Hepatic complications occur in a significant proportion of children with autosomal recessive polycystic kidney disease (ARPKD)...
  7. Harris P, Rossetti S. Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 2004;81:75-85 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited childhood nephropathy ( approximately 1:20,000 live births) characterized by fusiform dilatation of collecting ducts and congenital hepatic fibrosis...
  8. Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429-32 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases...
  9. Yamaguchi T, Hempson S, Reif G, Hedge A, Wallace D. Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells. J Am Soc Nephrol. 2006;17:178-87 pubmed
    ..Thus, increases in [Ca2+]i are able to restore the normal anti-mitogenic response to cAMP in cells that are derived from two genetically distinct forms of PKD...
  10. Gunay Aygun M, Avner E, Bacallao R, Choyke P, Flynn J, Germino G, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr. 2006;149:159-64 pubmed
  11. Masyuk T, Masyuk A, Torres V, Harris P, Larusso N. Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. Gastroenterology. 2007;132:1104-16 pubmed
    ..octreotide (an analogue of somatostatin known to inhibit cAMP) in hepatic cyst growth using an in vitro model of cystogenesis and an in vivo animal model of autosomal recessive polycystic kidney disease (ARPKD), one of the PCLDs.
  12. Sweeney W, von Vigier R, Frost P, Avner E. Src inhibition ameliorates polycystic kidney disease. J Am Soc Nephrol. 2008;19:1331-41 pubmed publisher
    ..These data suggest that Src inhibition may provide therapeutic benefit in PKD...
  13. Torres V, Harris P. Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol. 2006;2:40-55; quiz 55 pubmed
    Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the best known of a large family of inherited diseases characterized by the development of renal cysts of tubular epithelial cell origin...
  14. Bergmann C, Kupper F, Schmitt C, Vester U, Neuhaus T, Senderek J, et al. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). J Med Genet. 2005;42:e63 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA...
  15. Losekoot M, Haarloo C, Ruivenkamp C, White S, Breuning M, Peters D. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet. 2005;118:185-206 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis...
  16. Rossetti S, Harris P. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2007;18:1374-80 pubmed
    ..The information that is now available on both genes is of considerable prognostic value with the prospects from the ongoing genetic revolution that additional risk factors will be revealed...
  17. Gattone V, Lowden D, Cowley B. Epidermal growth factor ameliorates autosomal recessive polycystic kidney disease in mice. Dev Biol. 1995;169:504-10 pubmed
  18. Ryan S, Verghese S, Cianciola N, Cotton C, Carlin C. Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways. Mol Biol Cell. 2010;21:2732-45 pubmed publisher
    ..They also indicate for the first time that the Bicc1 gene that is defective in the mouse model used in these studies regulates cargo-specific protein sorting mediated by the epithelial cell specific clathrin adaptor AP-1B. ..
  19. Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, et al. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004;23:487-95 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood...
  20. Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik Schoneborn S, Heikkila P, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998;76:137-44 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy...
  21. Onuchic L, 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 immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002;70:1305-17 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and congenital hepatic fibrosis...
  22. Chittenden L, Lu X, Cacheiro N, Cain K, Generoso W, Bryda E, et al. A new mouse model for autosomal recessive polycystic kidney disease. Genomics. 2002;79:499-504 pubmed
    ..large-scale mutagenesis studies, we discovered a mutant that provides a new mouse model for human autosomal recessive polycystic kidney disease...
  23. Zerres K, Rudnik Schoneborn S, Senderek J, Eggermann T, Bergmann C. Autosomal recessive polycystic kidney disease (ARPKD). J Nephrol. 2003;16:453-8 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed...
  24. Nauta J, Ozawa Y, Sweeney W, Rutledge J, Avner E. Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 1993;7:163-72 pubmed
    Current models of autosomal recessive polycystic kidney disease (ARPKD) fail to demonstrate biliary abnormalities in association with renal cysts...
  25. Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004;23:453-63 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. The clinical spectrum is widely variable...
  26. Gattone V, MacNaughton K, Kraybill A. Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene. Anat Rec. 1996;245:488-99 pubmed
    ..The C57BL/6J-cpk/cpk mouse model of ARPKD is the most extensively studied murine model of inherited infantile PKD; however, these mice lack extrarenal pathology...
  27. Jia G, Kwon M, Liang H, Mortensen J, Nilakantan V, Sweeney W, et al. Chronic treatment with lisinopril decreases proliferative and apoptotic pathways in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010;25:1139-46 pubmed publisher
    Angiotensin converting enzyme (ACE) inhibition is a common therapeutic modality in the treatment of autosomal recessive polycystic kidney disease (ARPKD)...
  28. Gunay Aygun M, Parisi M, Doherty D, Tuchman M, Tsilou E, Kleiner D, et al. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr. 2009;155:386-92.e1 pubmed publisher
    To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)...
  29. Williams S, Cobo Stark P, James L, Somlo S, Igarashi P. Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2008;23:733-41 pubmed publisher
    Mutations in PKHD1 cause autosomal recessive polycystic kidney disease (ARPKD). We produced a mouse model of ARPKD by replacing exons 1-3 of Pkhd1 with a lacZ reporter gene utilizing homologous recombination...
  30. Ward C, Hogan M, 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;30:259-69 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality...
  31. Brown N, Murcia N. Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice. Kidney Int. 2003;63:1220-9 pubmed
    ..Scanning electron microscopy was utilized to observe and measure cilia expression in cysts from orpk, orpk rescue, and KO rescue animals...
  32. 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;66:53-7 pubmed
    Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only...
  33. Traubici J, Daneman A. High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol. 2005;184:1630-3 pubmed
    Our objective was to describe the spectrum of renal findings using a high-frequency linear array transducer in patients with autosomal recessive polycystic kidney disease (ARPKD).
  34. Ward C, Yuan D, Masyuk T, 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;12:2703-10 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis...
  35. Wang X, Gattone V, Harris P, Torres V. Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol. 2005;16:846-51 pubmed
  36. Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, et al. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics. 2002;80:96-104 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children...
  37. Rohatgi R, Greenberg A, Burrow C, Wilson P, Satlin L. Na transport in autosomal recessive polycystic kidney disease (ARPKD) cyst lining epithelial cells. J Am Soc Nephrol. 2003;14:827-36 pubmed
    ..Whether Na absorption is mediated by ENaC, perhaps of nonclassical subunit composition, or another amiloride-sensitive transporter remains to be determined...
  38. Veizis I, Cotton C. Abnormal EGF-dependent regulation of sodium absorption in ARPKD collecting duct cells. Am J Physiol Renal Physiol. 2005;288:F474-82 pubmed
    ..The results of these studies reveal that the mislocalized apical EGF receptors are functionally coupled to the ERK pathway and that abnormal EGF-dependent regulation of ENaC function and expression may contribute to PKD pathophysiology...
  39. Consugar M, Anderson S, Rossetti S, Pankratz V, Ward C, Torra R, et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis. 2005;45:77-87 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is characterized by wide phenotypic variability, ranging from in utero detection with enlarged, echogenic kidneys to an adult presentation with congenital hepatic fibrosis...
  40. Turkbey B, Ocak I, Daryanani K, Font Montgomery E, Lukose L, Bryant J, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009;39:100-11 pubmed publisher
  41. Banales J, Masyuk T, Bogert P, Huang B, Gradilone S, Lee S, et al. Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Am J Pathol. 2008;173:1637-46 pubmed publisher
    Polycystic kidney (PCK) rats are a spontaneous model of autosomal recessive polycystic kidney disease that exhibit cholangiocyte-derived liver cysts...
  42. Yang J, Zhang S, Zhou Q, Guo H, Zhang K, Zheng R, et al. PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease. J Biochem Mol Biol. 2007;40:467-74 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is one of the important genetic disorders in pediatric practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD...
  43. Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2005;25:225-31 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression...
  44. Wang S, Luo Y, Wilson P, Witman G, 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 pubmed
    ..FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal recessive polycystic kidney disease among human subjects, is also a component of primary cilia in the kidney, antipeptide ..
  45. Ricker J, Gattone V, Calvet J, Rankin C. Development of autosomal recessive polycystic kidney disease in BALB/c-cpk/cpk mice. J Am Soc Nephrol. 2000;11:1837-47 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a rare but devastating inherited disease in humans. Various strains of mice that are homozygous for the cpk gene display renal pathology similar to that seen in human ARPKD...
  46. Al Bhalal L, Akhtar M. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). Adv Anat Pathol. 2008;15:54-8 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is a serious genetic disease characterized by cystic changes in the collecting ducts of the kidney and bile ducts within the liver...
  47. Woollard J, Punyashtiti R, Richardson S, Masyuk T, Whelan S, Huang B, et al. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007;72:328-36 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the polycystic kidney and hepatic disease (PKHD1) gene encoding the protein fibrocystin/polyductin...
  48. Nakanishi K, Sweeney W, MacRae Dell K, Cotton C, Avner E. Role of CFTR in autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2001;12:719-25 pubmed
    ..studies have addressed the pathophysiology of fluid secretion in cyst formation and enlargement in autosomal recessive polycystic kidney disease (ARPKD)...
  49. Moser M, Matthiesen S, Kirfel J, Schorle H, Bergmann C, Senderek J, et al. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology. 2005;41:1113-21 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of liver- and renal-related morbidity and mortality in childhood...
  50. Banales J, Masyuk T, Gradilone S, Masyuk A, Medina J, Larusso N. The cAMP effectors Epac and protein kinase a (PKA) are involved in the hepatic cystogenesis of an animal model of autosomal recessive polycystic kidney disease (ARPKD). Hepatology. 2009;49:160-74 pubmed publisher
    PCK rats, an animal model of autosomal recessive polycystic kidney disease (ARPKD), develop cholangiocyte-derived liver cysts associated with increased intracellular adenosine 3',5'-cyclic adenosine monophosphate (cAMP), the inhibition ..
  51. Sweeney W, Kusner L, Carlin C, Chang S, Futey L, Cotton C, et al. Phenotypic analysis of conditionally immortalized cells isolated from the BPK model of ARPKD. Am J Physiol Cell Physiol. 2001;281:C1695-705 pubmed
    To study the pathophysiology of autosomal recessive polycystic kidney disease (ARPKD), we sought to develop conditionally immortalized control and cystic murine collecting tubule (CT) cell lines...
  52. Lilova M, Petkov D. Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2001;16:1030-2 pubmed
    ..There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA...
  53. Denamur E, Delezoide A, Alberti C, Bourillon A, Gubler M, Bouvier R, et al. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 2010;77:350-8 pubmed publisher
    The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype...
  54. Sweeney W, Avner E. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res. 2006;326:671-85 pubmed
    b>Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes characterized by dual renal and hepatic involvement of variable severity...