Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease

Gastroenterology

Volumn 144, Issue 1, 2013, Pages

  Gunay Aygun, Meral ^a,b   Font Montgomery, Esperanza ^a   Lukose, Linda ^a   Tuchman Gerstein, Maya ^a   Piwnica Worms, Katie ^a   Choyke, Peter ^c   Daryanani, Kailash T ^d   Turkbey, Baris ^c   Fischer, Roxanne ^a   Bernardini, Isa ^a   Sincan, Murat ^a   Zhao, Xiongce ^e   Sandler, Netanya G ^f   Roque, Annelys ^f   Douek, Daniel C ^f   Graf, Jennifer ^a   Huizing, Marjan ^a   Bryant, Joy C ^a   Mohan, Parvathi ^g   Gahl, William A ^a,b   Heller, Theo ^e   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Intramural Program of the Office of Rare Diseases   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

Ductal Plate Malformation; Genetics; Hepatorenal Fibrocystic Disease; Noncirrhotic Portal Hypertension

Indexed keywords

ALBUMIN; BILIRUBIN; FATTY ACID BINDING PROTEIN 2; FIBROCYSTIN;

ADOLESCENT; ADULT; ALBUMIN BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE; BILIRUBIN BLOOD LEVEL; CAROLI DISEASE; CHILD; CHOLANGITIS; FEMALE; GENE MUTATION; HUMAN; KIDNEY FUNCTION; KIDNEY MEDULLA; KIDNEY POLYCYSTIC DISEASE; KIDNEY TRANSPLANTATION; LIVER FIBROSIS; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PORTAL HYPERTENSION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; SCHOOL CHILD; SPLEEN SIZE; SPLENOMEGALY; THROMBOCYTE COUNT;

EID: 84871345094     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2012.09.056     Document Type: Article

References (41)

1. K. Zerres, S. Rudnik-Schoneborn, F. Deget Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender Arbeitsgemeinschaft fur Padiatrische, Nephrologie Acta Paediatr 85 1996 437 445
2. R. Capisonda, V. Phan, J. Traubuci Autosomal recessive polycystic kidney disease: outcomes from a single-center experience Pediatr Nephrol 18 2003 119 126
3. L.M. Guay-Woodford, R.A. Desmond Autosomal recessive polycystic kidney disease: the clinical experience in North America Pediatrics 111 2003 1072 1080
4. M. Gunay-Aygun, T. Heller, W.A. Gahl Congenital hepatic fibrosis overview GeneReviews at GeneTests: Medical Genetics Information Resource [database online] 2008 University of Washington Seattle, WA http://www.genetests.org
5. M. Gunay-Aygun, E. Font-Montgomery, L. Lukose Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease Clin J Am Soc Nephrol 5 2010 972 984
6. M. Gunay-Aygun, E.D. Avner 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 149 2006 159 164
7. M. Gunay-Aygun Liver and kidney disease in ciliopathies Am J Med Genet C Semin Med Genet 151C 2009 296 306
8. M.J. Jorgensen The ductal plate malformation Acta Pathol Microbiol Scand Suppl 1977 1 87
9. M. Jorgensen A stereological study of intrahepatic bile ducts 4. Congenital hepatic fibrosis Acta Pathol Microbiol Scand A 82 1974 21 29
10. V.J. Desmet Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation." Hepatology 16 1992 1069 1083
11. V.J. Desmet What is congenital hepatic fibrosis? Histopathology 20 1992 465 477
12. V.J. Desmet Ludwig symposium on biliary disorders - part I Pathogenesis of ductal plate abnormalities Mayo Clin Proc 73 1998 80 89
13. D.N. Kerr, S. Okonkwo, R.G. Choa Congenital hepatic fibrosis: the long-term prognosis Gut 19 1978 514 520
14. F. Alvarez, O. Bernard, F. Brunelle Congenital hepatic fibrosis in children J Pediatr 99 1981 370 375
15. J.A. Summerfield, Y. Nagafuchi, S. Sherlock Hepatobiliary fibropolycystic disease: a clinical and histological review of 51 patients J Hepatol 2 1986 141 156
16. J. Caroli Diseases of the intrahepatic biliary tree Clin Gastroenterol 2 1973 147 161
17. C.J. Ward, M.C. Hogan, S. Rossetti The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 2002 259 269
18. L.F. Onuchic, L. Furu, Y. Nagasawa 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 2002 1305 1317
19. N. Sharma, N.F. Berbari, B.K. Yoder Ciliary dysfunction in developmental abnormalities and diseases Curr Top Dev Biol 85 2008 371 427
20. K. O'Brien, E. Font-Montgomery, L. Lukose Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease J Pediatr Gastroenterol Nutr 54 2012 83 89
21. S. Roy, M.J. Dillon, R.S. Trompeter Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors Pediatr Nephrol 11 1997 302 306
22. C. Fonck, D. Chauveau, M.F. Gagnadoux Autosomal recessive polycystic kidney disease in adulthood Nephrol Dial Transplant 16 2001 1648 1652
23. M. Adeva, M. El-Youssef, S. Rossetti Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD) Medicine (Baltimore) 85 2006 1 21
24. K. Zerres, M.C. Volpel, H. Weiss Cystic kidneys Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis Hum Genet 68 1984 104 135
25. M. Gunay-Aygun, M. Tuchman, E. Font-Montgomery PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis Mol Genet Metab 99 2010 160 173
26. G.J. Schwartz, A. Munoz, M.F. Schneider New equations to estimate GFR in children with CKD J Am Soc Nephrol 20 2009 629 637
27. A. Grubb, J. Bjork, V. Lindstrom A cystatin C-based formula without anthropometric variables estimates glomerular filtration rate better than creatinine clearance using the Cockcroft-Gault formula Scand J Clin Lab Invest 65 2005 153 162
28. S.D. Megremis, I.G. Vlachonikolis, A.M. Tsilimigaki Spleen length in childhood with US: normal values based on age, sex, and somatometric parameters Radiology 231 2004 129 134
29. O.L. Konus, A. Ozdemir, A. Akkaya Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography AJR Am J Roentgenol 171 1998 1693 1698
30. M. Hernanz-Schulman, M.M. Ambrosino, P.C. Freeman Common bile duct in children: sonographic dimensions Radiology 195 1995 193 195
31. J.J. Grantham, V.E. Torres, A.B. Chapman Volume progression in polycystic kidney disease N Engl J Med 354 2006 2122 2130
32. B. Cheong, R. Muthupillai, M.F. Rubin Normal values for renal length and volume as measured by magnetic resonance imaging Clin J Am Soc Nephrol 2 2007 38 45
33. T. Noda, T. Todani, Y. Watanabe Liver volume in children measured by computed tomography Pediatr Radiol 27 1997 250 252
34. H.C. Yu, H. You, H. Lee Estimation of standard liver volume for liver transplantation in the Korean population Liver Transpl 10 2004 779 783
35. J.M. Coppoletta, M.D. Wolbach Body length and organ weights of infants and children Am J Pathol 9 1933 55 70
36. A.E. Schlesinger, K.A. Edgar, L.A. Boxer Volume of the spleen in children as measured on CT scans: normal standards as a function of body weight AJR Am J Roentgenol 160 1993 1107 1109
37. Y. Watanabe, T. Todani, T. Noda Standard splenic volume in children and young adults measured from CT images Surg Today 27 1997 726 728
38. M.F. Gagnadoux, R. Habib, M. Levy Cystic renal diseases in children Adv Nephrol Necker Hosp 18 1989 33 57
39. J.S. Bajaj, J. Bhattacharjee, S.K. Sarin Coagulation profile and platelet function in patients with extrahepatic portal vein obstruction and non-cirrhotic portal fibrosis J Gastroenterol Hepatol 16 2001 641 646
40. N.G. Sandler, C. Koh, A. Roque Host response to translocated microbial products predicts outcomes of patients with HBV or HCV infection Gastroenterology 141 2011 1220 1230 1230 e1-3
41. B. Goilav, K.I. Norton, L.M. Satlin Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association Pediatr Transplant 10 2006 294 298