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Chapter 41 - Fibrocystic liver disease

from Section V - Other considerations and issues in pediatric hepatology

Published online by Cambridge University Press:  05 March 2014

By
Ronen Arnon ,
Maureen M. Jonas ,
Antonio R. Perez-Atayde  and
Frederick J. Suchy
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Ronen Arnon
Affiliation:
Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA
Maureen M. Jonas
Affiliation:
Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA
Antonio R. Perez-Atayde
Affiliation:
Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
William F. Balistreri
Affiliation:
University of Cincinnati College of Medicine
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Summary

Introduction

Fibrocystic liver disease refers to a heterogeneous group of disorders that share some pathophysiologic and clinical features but have important differences. Cystic dilatation of intrahepatic bile duct structures and variable degrees of portal fibrosis are the hallmarks of fibrocystic liver disease. In most instances, there are morphologic abnormalities in the kidneys and pancreas that parallel those of the liver. For this reason, and to appreciate more thoroughly the shared pathogenesis and implications for organogenesis, fibrocystic liver disease and corresponding renal counterparts are discussed together.

It has been recognized for centuries that hepatic and renal cysts are seen in the same individuals [1], although it has not always been accepted that they are manifestations of the same diseases. The older literature contains confusing descriptive classifications of fibrocystic diseases, with imprecise and overlapping definitions. Even now, attempts at describing clinical and radiographic features, prognosis, natural history, and treatment are somewhat hampered by reliance on these descriptive reports. However, much of the molecular basis for these disorders has been elucidated, and clinical diagnoses are being modified using more exact genetic criteria. The current consensus is that genetic determinants of differentiation and development of renal tubules and biliary structures result in a broad spectrum of congenital abnormalities grouped under the heading of fibrocystic liver and kidney disease.

Type
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Information
Liver Disease in Children , pp. 710 - 727
Publisher: Cambridge University Press
Print publication year: 2014

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References

Bristowe, C. Cystic disease of the liver associated with a similar disease of the kidneys. Trans Pathol Soc Lond 1856;7:229–234.Google Scholar
Jorgensen, MJ. The ductal plate malformation. Acta Pathol Microbiol Immunol Scand Suppl A 1977;257:1–88.Google Scholar
Desmet, VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation.”Hepatology 1992;16:1069–1083.CrossRefGoogle ScholarPubMed
Osathanondh, V, Potter, EL. Development of the human kidney as shown by microdissection. Arch Pathol 1963;76:277–302.Google ScholarPubMed
Gabow, PA. Autosomal dominant polycystic kidney disease. N Engl J Med 1993;329:332–342.CrossRefGoogle ScholarPubMed
Rogers, TN, Woodley, H, Ramsden, W, Wyatt, JI, Stringer, MD. Solitary liver cysts in children: not always so simple. J Pediatr Surg 2007;42:333–339.CrossRefGoogle Scholar
Kerr, DNS, Harrison, CV, Sherlock, S, et al. Congenital hepatic fibrosis. Q J Med 1961;30:91–117.Google ScholarPubMed
Blythe, H, Ockenden, BG. Polycystic disease of the kidneys and liver presenting in childhood. J Med Genet 1971;8:257–284.CrossRefGoogle Scholar
Onuchic, LF, Furu, L, Nagasaka, Y, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunogloulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 2002;70:1305–1317.CrossRefGoogle ScholarPubMed
Ward, CJ, Hogan, MC, Rossetti, S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002;30:259–269.CrossRefGoogle ScholarPubMed
Rossetti, S, Torra, R, Coto, E, et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int 2003;64:391–403.CrossRefGoogle ScholarPubMed
Bergmann, C, Senderek, J, Windelen, E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005:67:829–848.CrossRefGoogle Scholar
O’Brien, K, Font-Montgomery, E, Lukose, L, et al: Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. J Pediatr Gastroenterol Nutr 2012;54:83–89.CrossRefGoogle ScholarPubMed
Srinath, A, Shneider, BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease: an analytic review of the literature. J Pediatr Gastroenterol Nutr 2012;54:580–587.CrossRefGoogle Scholar
Adeva, M, El-Youssef, M, Rossetti, S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine 2006;85:1–21.CrossRefGoogle Scholar
Summerfield, JA, Nagafuchi, Y, Sherlock, S, et al. Hepatobiliary fibropolycystic disease: a clinical and histological review of 51 patients. J Hepatol 1986;2:141–156.CrossRefGoogle ScholarPubMed
Zerres, K, Senderek, J, Rudnik-Schöneborn, S, 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.CrossRefGoogle ScholarPubMed
Akhan, O, Karaosmanoğlu, AD, Ergen, B. Imaging findings in congenital hepatic fibrosis. Eur J Radiol 2007;61:18–24.CrossRefGoogle ScholarPubMed
Shneider, BL, Magid, MS. Liver disease in autosomal recessive polycystic kidney disease. Pediatr Transplant 2005;9:634–639.CrossRefGoogle ScholarPubMed
Gunay-Aygun, M, Gahl, WA, Heller, T. Congenital hepatic fibrosis overview. In Pagon, RA, Bird, TD, Dolan, CR, Stephens, K (eds.) GeneReviews. Seattle, WA: University of Washington, Seattle, 1993–.Google ScholarPubMed
Garcia-Tsao, G, Sanyal, AJ, Grace, ND et al. Prevention and management of gastroesophageal varices and variceal hemorrhage in cirrhosis. Am J Gastroenterol 2007;102:2086–2102.CrossRefGoogle ScholarPubMed
Bergmann, C, Senderek, J, Windelen, E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005;67:829–848.CrossRefGoogle Scholar
Caroli, J, Couinaud, C, Soupault, R, et al. Une affection nouvelle, sans doute congénitale, des voies biliaires: la dilatation cystique unilobaire des canaux hépatiques. Sem Hop Paris 1958;34:136–142.Google Scholar
Jordan, D, Harpaz, N, Thung, SN. Caroli’s disease and adult polycystic kidney disease: a rarely recognized association. Liver 1989;9:30–35.CrossRefGoogle Scholar
Goilav, B, Norton, KI, Satlin, LM et al: Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatr Transplant 2006;10:294–298.CrossRefGoogle ScholarPubMed
Raymond, M-J, Huguet, C, Danan, G, et al. Partial hepatectomy in the treatment of Caroli’s disease. Dig Dis Sci 1984;29:367–370.CrossRefGoogle Scholar
Lendoire, JC, Raffin, G, Grondona, J, et al. Caroli’s disease: report of surgical options and long-term outcome of patients treated in argentina. multicenter study. J Gastrointest Surg 2011;15:1814–1819.CrossRefGoogle ScholarPubMed
Kim, RD, Book, L, Haafiz, A, et al. Liver transplantation in a 7-month-old girl with Caroli’s disease. J Pediatr Surg 2011;46:1638–1641.CrossRefGoogle Scholar
Millwala, F, Segev, DL, Thuluvath, PJ. Caroli’s disease and outcomes after liver transplantation. Liver Transplant 2008;14:11–17.CrossRefGoogle ScholarPubMed
Welling, LW, Grantham, JJ. Cystic and developmental diseases of the kidney. In Brenner, BM, Rector, FC (eds.) The Kidney. Philadelphia, PA: Saunders, 1991, pp. 33–36.Google Scholar
Macrae Dell, K. The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis 2011;18:339–347.CrossRefGoogle Scholar
Zhou, J. Polycystins and primary cilia: primers for cell cycle progression. Annu Rev Physiol 2009:71:83–113.CrossRefGoogle ScholarPubMed
Gascue, C, Katsanis, N, Badano, JL. Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol 2011;26:1181–1195.CrossRefGoogle ScholarPubMed
Wilson, PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol 2004;36:1868–1873.CrossRefGoogle ScholarPubMed
D’Agata, ID, Jonas, MM, Perez-Atayde, AR, et al. Combined cystic disease of the liver and kidney. Semin Liver Dis 1994;14:215–228.CrossRefGoogle ScholarPubMed
Gunay-Aygun, M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:296–306.CrossRefGoogle ScholarPubMed
Torres, VE, Harris, PC, Pirson, Y. Autosomal dominant polycystic kidney disease. Lancet 2007;369:1287–1301.CrossRefGoogle ScholarPubMed
Desmet, VJ. Ludwig symposium on biliary disorders: part I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 1998;73:80–89.CrossRefGoogle ScholarPubMed
Burns, CD, Kuhns, JG, Wieman, TJ. Cholangiocarcinoma in association with multiple biliary microhamartomas. Arch Path Lab Med 1990;114:1287–1289.Google ScholarPubMed
Nagano, Y, Matsuo, K, Gorai, K, et al. Bile duct hamartomas (von Mayenburg complexes) mimicking liver metastases from bile duct cancer: MRC findings. World J Gastroenterol 2006;12:1321–1323.CrossRefGoogle Scholar
van Keimpema, L, Nevens, F, Vanslembrouck, R, et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology 2009;137:1661–1668.CrossRefGoogle ScholarPubMed
Kabbej, M, Sauvanet, A, Chauveau, D, et al. Laparoscopic fenestration in polycystic liver disease. Brit J Surg 1996;83:1697–1701.CrossRefGoogle ScholarPubMed
Hoevenaren, IA, Wester, R, Schrier, RW, et al. Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. Liver Int 2008;28:264–270.CrossRefGoogle ScholarPubMed
Drenth, JP, Chrispijn, M, Nagorney, DM, et al. Medical and surgical treatment options for polycystic liver disease. Hepatology 2010;52:2223–2230.CrossRefGoogle ScholarPubMed
Drenth, JP, Tahvanainen, E, te Morsche, RH, et al. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology 2004;39:924–931.CrossRefGoogle ScholarPubMed
Jaeken, J, Matthijs, G, Saudubray, J-M, et al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic: intestinal presentation. Am J Hum Genet 1998;62:1535–1539.CrossRefGoogle ScholarPubMed
Janssen, MJ, Waanders, E, Te Morsche, RH, et al. Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease. Gastroenterology 2011;141:2056–2063.CrossRefGoogle ScholarPubMed
Calvet, JP. Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation? Kidney Int 1993;43:101–108.CrossRefGoogle ScholarPubMed
Carone, FA, Nakanura, S, Schumacher, BS, et al. Cyst-derived cells do not exhibit accelerated growth or features of transformed cells in vitro. Kidney Int 1989;35:1351–1357.CrossRefGoogle ScholarPubMed
Nauta, J, Sweeney, WE, Rutledge, JC, et al. Biliary epithelial cells from mice with congenital polycystic kidney disease are hyperresponsive to epidermal growth factor. Pediatr Res 1995;37:755–763.CrossRefGoogle ScholarPubMed
Isfort, RJ, Cody, DB, Doersen, CJ, et al. The tetratricopeptide repeat containing Tg737 gene is a liver neoplasia tumor suppressor gene. Oncogene 1997;15:1797–1803.CrossRefGoogle ScholarPubMed
Lu, W, Fan, X, Basora, N, et al. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Nat Genet 1999;21:160–161.CrossRefGoogle ScholarPubMed
Nauli, SM, Alenghat, FJ, Luo, Y, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003;33:129–137.CrossRefGoogle ScholarPubMed
Pazour, GJ, Dickert, BL, Vucica, Y, et al. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol 2000;151:709–718.CrossRefGoogle ScholarPubMed
El-Youssef, M, Mu, Y, Huang, L, et al. Increased expression of transforming growth factor-β1 and thrombospondin-1 in congenital hepatic fibrosis: possible role of the hepatic stellate cell. J Pediatr Gastroenterol Nutr 1999;28:386–392.CrossRefGoogle ScholarPubMed
Raynaud, P, Tate, J, Callens, CA et al. Classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis. Hepatology 2011;53:1959–1966.CrossRefGoogle ScholarPubMed

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  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
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  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
Available formats
×