Skip to main content
SpringerLink
Log in

Metabolic Liver Disease: Part 2

  • Chapter
  • First Online:
Diseases of the Liver in Children

  • 1785 Accesses

Abstract

This chapter will review three genetically determined diseases: alpha-1 antitrypsin deficiency, Wilson disease, and hereditary hemochromatosis. Liver disease associated with cystic fibrosis and other disorders of iron storage are also reviewed.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 139.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 179.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Perlmutter DH. Alpha-1-antitrypsin deficiency. Semin Liver Dis. 1998;18(3):217–25.

    Article  PubMed  CAS  Google Scholar 

  2. Perlmutter DH. Alpha-1 antitrypsin deficiency. In: Walker WA, editor. Pediatric gastrointestinal disease. 3rd ed. Hamilton: B C Decker; 2000.

    Google Scholar 

  3. Perlmutter DH. Alpha-1 antitrypsin deficiency. In: Suchy F, Sokol R, editors. Liver disease in children. 3rd ed. Cambridge: Cambridge University Press; 2007. p. 545–71.

    Chapter  Google Scholar 

  4. Marciniuk DD, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19(2):109–16.

    PubMed  PubMed Central  Google Scholar 

  5. Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749–57.

    Article  PubMed  CAS  Google Scholar 

  6. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294(24):1316–21.

    Article  PubMed  CAS  Google Scholar 

  7. Sveger T. Alpha 1-antitrypsin deficiency in early childhood. Pediatrics. 1978;62(1):22–5.

    PubMed  CAS  Google Scholar 

  8. Eriksson S. Alpha 1-antitrypsin deficiency. J Hepatol. 1999;30 Suppl 1:34–9.

    PubMed  Google Scholar 

  9. Gadek JE, et al. Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema. J Clin Invest. 1981;68(4):889–98.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  10. Perlmutter DH, Pierce JA. The alpha 1-antitrypsin gene and emphysema. Am J Physiol. 1989;257(4 Pt 1):L147–62.

    PubMed  CAS  Google Scholar 

  11. Teckman JH, Perlmutter DH. Retention of mutant alpha(1)-antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Am J Physiol Gastrointest Liver Physiol. 2000;279(5):G961–74.

    PubMed  CAS  Google Scholar 

  12. Pierce JA, Eradio BG. Improved identification of antitrypsin phenotypes through isoelectric focusing with dithioerythritol. J Lab Clin Med. 1979;94(6):826–31.

    PubMed  CAS  Google Scholar 

  13. Ranes J, Stoller JK. A review of alpha-1 antitrypsin deficiency. Semin Respir Crit Care Med. 2005;26(2):154–66.

    Article  PubMed  Google Scholar 

  14. Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem. 1983;52:655–709.

    Article  PubMed  CAS  Google Scholar 

  15. Perlmutter DH. Alpha-1-antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates. Annu Rev Med. 2011;62:333–45.

    Article  PubMed  CAS  Google Scholar 

  16. Hofker MH, et al. Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene. Biochem Biophys Res Commun. 1988;155(2):634–42.

    Article  PubMed  CAS  Google Scholar 

  17. Laurell CB, Nosslin B, Jeppsson JO. Catabolic rate of alpha1-antitrypsin of Pi type M and Z in man. Clin Sci Mol Med. 1977;52(5):457–61.

    PubMed  CAS  Google Scholar 

  18. Lomas DA, et al. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature. 1992;357(6379):605–7.

    Article  PubMed  CAS  Google Scholar 

  19. Bathurst IC, et al. Structural and functional characterization of the abnormal Z alpha 1-antitrypsin isolated from human liver. FEBS Lett. 1984;177(2):179–83.

    Article  PubMed  CAS  Google Scholar 

  20. Ogushi F, et al. Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest. 1987;80(5):1366–74.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  21. Rosenthal P, Liebman WM, Thaler MM. Alpha 1-antitrypsin deficiency and severe infantile liver disease. Am J Dis Child. 1979;133(11):1195–6.

    PubMed  CAS  Google Scholar 

  22. Waasdorp Hurtado C, Sokol R, Rosen H. Metabolic liver disease. In: Friedman’s handbook of liver disease. 3rd ed. Philadelphia, PA: Elsevier/Mosby; 2011.

    Google Scholar 

  23. Propst T, et al. High prevalence of viral infection in adults with homozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease. Ann Intern Med. 1992;117(8):641–5.

    Article  PubMed  CAS  Google Scholar 

  24. Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology. 1995;22(2):514–7.

    PubMed  CAS  Google Scholar 

  25. Topic A, Prokic D, Stankovic I. Alpha-1-antitrypsin deficiency in early childhood. Fetal Pediatr Pathol. 2011;30(5):312–9.

    Article  PubMed  CAS  Google Scholar 

  26. Odievre M, et al. Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis. Pediatrics. 1976;57(2):226–31.

    PubMed  CAS  Google Scholar 

  27. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204(5):345–51.

    PubMed  CAS  Google Scholar 

  28. Stoller JK, Aboussouan LS. A review of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3):246–59.

    Article  PubMed  CAS  Google Scholar 

  29. Guenter CA, et al. The pattern of lung disease associated with alpha antitrypsin deficiency. Arch Intern Med. 1968;122(3):254–7.

    Article  PubMed  CAS  Google Scholar 

  30. Kalsheker NA. Alpha1-antitrypsin deficiency: best clinical practice. J Clin Pathol. 2009;62(10):865–9.

    Article  PubMed  CAS  Google Scholar 

  31. Ghishan FK, Greene HL. Liver disease in children with PiZZ alpha 1-antitrypsin deficiency. Hepatology. 1988;8(2):307–10.

    Article  PubMed  CAS  Google Scholar 

  32. Qizilbash A, Young-Pong O. Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells. Am J Clin Pathol. 1983;79(6):697–702.

    PubMed  CAS  Google Scholar 

  33. Udall Jr JN, et al. Liver disease in alpha 1-antitrypsin deficiency. A retrospective analysis of the influence of early breast- vs bottle-feeding. JAMA. 1985;253(18):2679–82.

    Article  PubMed  Google Scholar 

  34. Labrune P, Odievre M, Alagille D. Influence of sex and breastfeeding on liver disease in alpha 1-antitrypsin deficiency. Hepatology. 1989;10(1):122.

    Article  PubMed  CAS  Google Scholar 

  35. Kemmer N, et al. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc. 2008;40(5):1492–4.

    Article  PubMed  CAS  Google Scholar 

  36. Stecenko AA, Brigham KL. Gene therapy progress and prospects: alpha-1 antitrypsin. Gene Ther. 2003;10(2):95–9.

    Article  PubMed  CAS  Google Scholar 

  37. Yusa K, et al. Targeted gene correction of alpha1-antitrypsin deficiency in induced pluripotent stem cells. Nature. 2011;478(7369):391–4.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  38. Carbamazepine in severe liver disease due to alpha-1 antitrypsin deficiency. Clinical Trials 2012. Available from: http://www.ClinicalTrials.gov/ct2/show/NCT01379469?term=alpha-1+antitrypsin. Cited 2 Nov 2012.

  39. Wilson SA. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–509.

    Article  Google Scholar 

  40. Scheinberg I, Sternleib I. Wilson’s disease. Philadelphia: WB Saunders; 1984.

    Google Scholar 

  41. Schilsky M, Scheinberg I, Sternleib I. Liver transplantation for Wilson’s disease: indications and outcomes. Hepatology. 1994;19:583–7.

    Article  PubMed  CAS  Google Scholar 

  42. Frydman M, et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A. 1985;82(6):1819–21.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  43. Merle U, et al. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut. 2007;56(1):115–20.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  44. Weiss KH, Stremmel W. Evolving perspectives in Wilson disease: diagnosis, treatment and monitoring. Curr Gastroenterol Rep. 2012;14(1):1–7.

    Article  PubMed  Google Scholar 

  45. Lee BH, et al. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson’s disease cohort. Liver Int. 2011;31(6):831–9.

    Article  PubMed  CAS  Google Scholar 

  46. Wilson’s Disease Database. 2012. Available from: http://www.wilsondisease.med.ualberta.ca/database.asp. Cited 2 Nov 2012.

  47. Rosencrantz R, Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 2011;31(3):245–59.

    Article  PubMed  CAS  Google Scholar 

  48. Chitkara D, Pleskow R, Grand R. Wilson disease. In: Walker WA, editor. Pediatric gastrointestinal disease. 3rd ed. Hamilton: BC Decker; 2000.

    Google Scholar 

  49. Walshe J, Briggs J. Ceruloplasmin in liver disease, a diagnostic pitfall. Lancet. 1962;ii:263–5.

    Article  Google Scholar 

  50. Factor SM, et al. The cardiomyopathy of Wilson’s disease. Myocardial alterations in nine cases. Virchows Arch A Pathol Anat Histol. 1982;397(3):301–11.

    Article  PubMed  CAS  Google Scholar 

  51. Manolaki N, et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 2009;48(1):72–7.

    Article  PubMed  Google Scholar 

  52. Yamaguchi Y, et al. Mass screening for Wilson’s disease: results and recommendations. Pediatr Int. 1999;41(4):405–8.

    Article  PubMed  CAS  Google Scholar 

  53. Wiebers D, Hollenhurst R, Goldstein N. The ophthalmologic manifestations of Wilson’s disease. Mayo Clinic Proc. 1977;52:409–16.

    CAS  Google Scholar 

  54. Chu CC, Huang CC, Chu NS. Recurrent hypokalemic muscle weakness as an initial manifestation of Wilson’s disease. Nephron. 1996;73(3):477–9.

    Article  PubMed  CAS  Google Scholar 

  55. Kuan P. Cardiac Wilson’s disease. Chest. 1987;91:579–83.

    Article  PubMed  CAS  Google Scholar 

  56. Werlin SL, et al. Diagnostic dilemmas of Wilson’s disease: diagnosis and treatment. Pediatrics. 1978;62(1):47–51.

    PubMed  CAS  Google Scholar 

  57. Ferenci P, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23(3):139–42.

    Article  PubMed  Google Scholar 

  58. Dhawan A, et al. Wilson’s disease in children: 37-year experience and revised King’s score for liver transplantation. Liver Transpl. 2005;11(4):441–8.

    Article  PubMed  Google Scholar 

  59. Nicastro E, et al. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 2010;52(6):1948–56.

    Article  PubMed  Google Scholar 

  60. European Association for Study of Liver. EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012;56(3):671–85.

    Google Scholar 

  61. Dorney SF, et al. Wilson’s disease in childhood. A plea for increased awareness. Med J Aust. 1986;145(10):538–41.

    PubMed  CAS  Google Scholar 

  62. Taylor RM, Chen Y, Dhawan A. Triethylene tetramine dihydrochloride (trientine) in children with Wilson disease: experience at King’s College Hospital and review of the literature. Eur J Pediatr. 2009;168(9):1061–8.

    Article  PubMed  Google Scholar 

  63. Narumi S, et al. Liver transplantation for Wilson’s disease in pediatric patients: decision making and timing. Transplant Proc. 2012;44(2):478–80.

    Article  PubMed  CAS  Google Scholar 

  64. Bem RS, et al. Wilson’s disease in southern Brazil: a 40-year follow-up study. Clinics (Sao Paulo). 2011;66(3):411–6.

    Article  Google Scholar 

  65. Corey M, et al. Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis. J Pediatr. 1997;131(6):809–14.

    Article  PubMed  CAS  Google Scholar 

  66. Corey M, Farewell V. Determinants of mortality from cystic fibrosis in Canada, 1970–1989. Am J Epidemiol. 1996;143(10):1007–17.

    Article  PubMed  CAS  Google Scholar 

  67. Kerem E, et al. Prediction of mortality in patients with cystic fibrosis. N Engl J Med. 1992;326(18):1187–91.

    Article  PubMed  CAS  Google Scholar 

  68. Efrati O, et al. Liver cirrhosis and portal hypertension in cystic fibrosis. Eur J Gastroenterol Hepatol. 2003;15(10):1073–8.

    Article  PubMed  Google Scholar 

  69. Colombo C. Liver disease in cystic fibrosis. Curr Opin Pulm Med. 2007;13(6):529–36.

    Article  PubMed  Google Scholar 

  70. Colombo C, et al. Liver disease in cystic fibrosis: a prospective study on incidence, risk factors, and outcome. Hepatology. 2002;36(6):1374–82.

    PubMed  Google Scholar 

  71. Lamireau T, et al. Epidemiology of liver disease in cystic fibrosis: a longitudinal study. J Hepatol. 2004;41(6):920–5.

    Article  PubMed  Google Scholar 

  72. Scott-Jupp R, Lama M, Tanner MS. Prevalence of liver disease in cystic fibrosis. Arch Dis Child. 1991;66(6):698–701.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  73. Bhattacharjee R, et al. The natural history of liver disease in cystic fibrosis. J Cyst Fibros. 2006;5:S61.

    Article  Google Scholar 

  74. Williams SM, et al. Ultrasound evaluation of liver disease in cystic fibrosis as part of an annual assessment clinic: a 9-year review. Clin Radiol. 2002;57(5):365–70.

    Article  PubMed  Google Scholar 

  75. Lenaerts C, et al. Surveillance for cystic fibrosis-associated hepatobiliary disease: early ultrasound changes and predisposing factors. J Pediatr. 2003;143(3):343–50.

    Article  PubMed  Google Scholar 

  76. Lindblad A, Glaumann H, Strandvik B. Natural history of liver disease in cystic fibrosis. Hepatology. 1999;30(5):1151–8.

    Article  PubMed  CAS  Google Scholar 

  77. Desmond CP, et al. The benign course of liver disease in adults with cystic fibrosis and the effect of ursodeoxycholic acid. Liver Int. 2007;27(10):1402–8.

    PubMed  CAS  Google Scholar 

  78. Lewindon PJ, Ramm GA. Cystic fibrosis-cirrhosis, portal hypertension, and liver biopsy: reply. Hepatology. 2011;53(3):1065–6.

    Article  PubMed  Google Scholar 

  79. Feigelson J, et al. Liver cirrhosis in cystic fibrosis–therapeutic implications and long term follow up. Arch Dis Child. 1993;68(5):653–7.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  80. Chryssostalis A, et al. Liver disease in adult patients with cystic fibrosis: a frequent and independent prognostic factor associated with death or lung transplantation. J Hepatol. 2011;55:1377–82.

    Article  PubMed  Google Scholar 

  81. Lewindon PJ, et al. Importance of hepatic fibrosis in cystic fibrosis and the predictive value of liver biopsy. Hepatology. 2011;53(1):193–201.

    Article  PubMed  CAS  Google Scholar 

  82. Witters P, et al. Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease. Hepatology. 2011;53(3):1064–5.

    Article  PubMed  Google Scholar 

  83. Rowland M, et al. Outcome in cystic fibrosis liver disease. Am J Gastroenterol. 2011;106(1):104–9.

    Article  PubMed  Google Scholar 

  84. Debray D, et al. Outcome of cystic fibrosis-associated liver cirrhosis: management of portal hypertension. J Hepatol. 1999;31(1):77–83.

    Article  PubMed  CAS  Google Scholar 

  85. Polineni D, et al. Pulmonary function (FEV1) in cystic fibrosis patients with and without severe liver disease with portal hypertension (CFLD). Am J Respir Crit Care Med. 2009;A1779.

    Google Scholar 

  86. Minicucci L, et al. Liver disease as risk factor for cystic fibrosis-related diabetes development. Acta Paediatr. 2007;96(5):736–9.

    Article  PubMed  CAS  Google Scholar 

  87. Sullivan KM, Moran A, Schwarzenberg S. Cystic fibrosis related diabetes in CF patients with cirrhosis. Pediatr Pulmonol. 2009;44:414.

    Google Scholar 

  88. Corbett K, et al. Cystic fibrosis-associated liver disease: a population-based study. J Pediatr. 2004;145(3):327–32.

    Article  PubMed  Google Scholar 

  89. Blanc WA, Di Sant’Agnese PA. A distinctive type of biliary cirrhosis of the liver associated with cystic fibrosis of the pancreas; recognition through signs of portal hypertension. Pediatrics. 1956;18(3):387–409.

    PubMed  CAS  Google Scholar 

  90. Vawter GF, Shwachman H. Cystic fibrosis in adults: an autopsy study. Pathol Annu. 1979;14(Pt 2):357–82.

    PubMed  Google Scholar 

  91. Robertson MB, Choe KA, Joseph PM. Review of the abdominal manifestations of cystic fibrosis in the adult patient. Radiographics. 2006;26(3):679–90.

    Article  PubMed  Google Scholar 

  92. Woodruff SA, et al. Prevalence of elevated liver function tests in children with cystic fibrosis diagnosed by newborn screen. J Pediatr Gastroenterol Nutr. 2007;45:E27–8.

    Google Scholar 

  93. Mayer-Hamblett N, et al. Incidence and clinical significance of elevated liver function tests in cystic fibrosis clinical trials. Contemp Clin Trials. 2012;34(2):232–8.

    Article  PubMed  Google Scholar 

  94. Debray D, et al. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J Cyst Fibros. 2011;10 Suppl 2:S29–36.

    Article  PubMed  Google Scholar 

  95. Herrmann U, Dockter G, Lammert F. Cystic fibrosis-associated liver disease. Best Pract Res Clin Gastroenterol. 2010;24(5):585–92.

    Article  PubMed  CAS  Google Scholar 

  96. Akata D, Akhan O. Liver manifestations of cystic fibrosis. Eur J Radiol. 2007;61(1):11–7.

    Article  PubMed  Google Scholar 

  97. Diwakar V, Pearson L, Beath S. Liver disease in children with cystic fibrosis. Paediatr Respir Rev. 2001;2(4):340–9.

    Article  PubMed  CAS  Google Scholar 

  98. Patriquin H, et al. Liver disease in children with cystic fibrosis: US-biochemical comparison in 195 patients. Radiology. 1999;211(1):229–32.

    Article  PubMed  CAS  Google Scholar 

  99. Durieu I, et al. Sclerosing cholangitis in adults with cystic fibrosis: a magnetic resonance cholangiographic prospective study. J Hepatol. 1999;30(6):1052–6.

    Article  PubMed  CAS  Google Scholar 

  100. Lykavieris P, Bernard O, Hadchouel M. Neonatal cholestasis as the presenting feature in cystic fibrosis. Arch Dis Child. 1996;75(1):67–70.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  101. Wilschanski M, Durie PR. Patterns of GI disease in adulthood associated with mutations in the CFTR gene. Gut. 2007;56(8):1153–63.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  102. Angelico M, et al. Gallstones in cystic fibrosis: a critical reappraisal. Hepatology. 1991;14(5):768–75.

    Article  PubMed  CAS  Google Scholar 

  103. Wasmuth HE, et al. Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. Hepatology. 2006;43(4):738–41.

    Article  PubMed  CAS  Google Scholar 

  104. Cohn JA, et al. Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. Gastroenterology. 1993;105(6):1857–64.

    PubMed  CAS  Google Scholar 

  105. Gerling B, et al. Prediction of liver fibrosis according to serum collagen VI level in children with cystic fibrosis. N Engl J Med. 1997;336(22):1611–2.

    Article  PubMed  CAS  Google Scholar 

  106. Pereira TN, et al. Serum markers of hepatic fibrogenesis in cystic fibrosis liver disease. J Hepatol. 2004;41(4):576–83.

    Article  PubMed  CAS  Google Scholar 

  107. Sidlova K, et al. Serum alpha-glutathione S-transferase as a sensitive marker of hepatocellular damage in patients with cystic fibrosis. Physiol Res. 2003;52(3):361–5.

    PubMed  CAS  Google Scholar 

  108. Rath T, et al. TIMP-1/-2 and transient elastography allow non invasive diagnosis of cystic fibrosis associated liver disease. Dig Liver Dis. 2012;44(9):780–7.

    Article  PubMed  Google Scholar 

  109. Williams SG, et al. An ultrasound scoring system for the diagnosis of liver disease in cystic fibrosis. J Hepatol. 1995;22(5):513–21.

    Article  PubMed  CAS  Google Scholar 

  110. Mueller-Abt PR, et al. Comparison of ultrasound and biopsy findings in children with cystic fibrosis related liver disease. J Cyst Fibros. 2008;7(3):215–21.

    Article  PubMed  Google Scholar 

  111. Witters P, et al. Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease. J Cyst Fibros. 2009;8(6):392–9.

    Article  PubMed  Google Scholar 

  112. Malbrunot-Wagner AC, et al. Transient elastography and portal hypertension in pediatric patients with cystic fibrosis Transient elastography and cystic fibrosis. J Cyst Fibros. 2011;10(5):338–42.

    Article  PubMed  CAS  Google Scholar 

  113. Boursier J, et al. Acoustic radiation force impulse: a new ultrasonographic technology for the widespread noninvasive diagnosis of liver fibrosis. Eur J Gastroenterol Hepatol. 2010;22(9):1074–84.

    Article  PubMed  Google Scholar 

  114. Baranova A, et al. Non-invasive markers for hepatic fibrosis. BMC Gastroenterol. 2011;11:91.

    Article  PubMed  PubMed Central  Google Scholar 

  115. Manco M, et al. Pilot study on the use of acoustic radiation force impulse imaging in the staging of cystic fibrosis associated liver disease. J Cyst Fibros. 2012;11:427–32.

    Article  PubMed  Google Scholar 

  116. Colombo C, et al. Liver disease in cystic fibrosis. J Pediatr Gastroenterol Nutr. 2006;43 Suppl 1:S49–55.

    Article  PubMed  Google Scholar 

  117. Moyer K, Balistreri W. Hepatobiliary disease in patients with cystic fibrosis. Curr Opin Gastroenterol. 2009;25(3):272–8.

    Article  PubMed  Google Scholar 

  118. Sokol RJ, Durie PR. Recommendations for management of liver and biliary tract disease in cystic fibrosis. Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. J Pediatr Gastroenterol Nutr. 1999;28 Suppl 1:S1–13.

    Article  PubMed  Google Scholar 

  119. Cheng K, Ashby D, Smyth RL. Ursodeoxycholic acid for cystic fibrosis-related liver disease. Cochrane Database Syst Rev. 2012;10:CD000222.

    Google Scholar 

  120. Ooi CY, et al. Ursodeoxycholic acid in cystic fibrosis-associated liver disease. J Cyst Fibros. 2012;11(1):72–3.

    Article  PubMed  CAS  Google Scholar 

  121. Neglia JP, et al. The risk of cancer among patients with cystic fibrosis. Cystic Fibrosis and Cancer Study Group. N Engl J Med. 1995;332(8):494–9.

    Article  PubMed  CAS  Google Scholar 

  122. O’Donnell DH, et al. Hepatocellular carcinoma complicating cystic fibrosis related liver disease. J Cyst Fibros. 2009;8(4):288–90.

    Article  PubMed  Google Scholar 

  123. Pozler O, et al. Transjugular intrahepatic portosystemic shunt in five children with cystic fibrosis: long-term results. Hepatogastroenterology. 2003;50(52):1111–4.

    PubMed  Google Scholar 

  124. Louis D, et al. Partial splenectomy for portal hypertension in cystic fibrosis related liver disease. Pediatr Pulmonol. 2007;42(12):1173–80.

    Article  PubMed  Google Scholar 

  125. Harned 2nd RK, et al. Partial splenic embolization in five children with hypersplenism: effects of reduced-volume embolization on efficacy and morbidity. Radiology. 1998;209(3):803–6.

    PubMed  Google Scholar 

  126. Fridell JA, et al. Liver transplantation in children with cystic fibrosis: a long-term longitudinal review of a single center’s experience. J Pediatr Surg. 2003;38(8):1152–6.

    Article  PubMed  Google Scholar 

  127. Milkiewicz P, et al. Transplantation for cystic fibrosis: outcome following early liver transplantation. J Gastroenterol Hepatol. 2002;17(2):208–13.

    Article  PubMed  Google Scholar 

  128. Noble-Jamieson G, et al. Liver transplantation for hepatic cirrhosis in cystic fibrosis. J R Soc Med. 1996;89 Suppl 27:31–7.

    PubMed  PubMed Central  Google Scholar 

  129. Gridelli B. Liver: benefit of liver transplantation in patients with cystic fibrosis. Nat Rev Gastroenterol Hepatol. 2011;8(4):187–8.

    Article  PubMed  Google Scholar 

  130. Mendizabal M, et al. Liver transplantation in patients with cystic fibrosis: analysis of United Network for Organ Sharing data. Liver Transpl. 2011;17(3):243–50.

    Article  PubMed  Google Scholar 

  131. Lu BR, Esquivel CO. A review of abdominal organ transplantation in cystic fibrosis. Pediatr Transplant. 2010;14:954–60.

    Article  PubMed  Google Scholar 

  132. Melzi ML, et al. Liver transplant in cystic fibrosis: a poll among European centers. A study from the European Liver Transplant Registry. Transpl Int. 2006;19(9):726–31.

    Article  PubMed  Google Scholar 

  133. Genyk YS, et al. Liver transplantation in cystic fibrosis. Curr Opin Pulm Med. 2001;7(6):441–7.

    Article  PubMed  CAS  Google Scholar 

  134. Nash KL, et al. Cystic fibrosis liver disease: to transplant or not to transplant? Am J Transplant. 2008;8(1):162–9.

    PubMed  CAS  Google Scholar 

  135. Miller MR, et al. Pulmonary function in individuals who underwent liver transplantation: from the US cystic fibrosis foundation registry. Liver Transpl. 2012;18(5):585–93.

    Article  PubMed  Google Scholar 

  136. Bartlett JR, et al. Genetic modifiers of liver disease in cystic fibrosis. JAMA. 2009;302(10):1076–83.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  137. Nightingale S, et al. Isolated liver transplantation in children with cystic fibrosis–an Australian experience. Pediatr Transplant. 2010;14(6):779–85.

    Article  PubMed  Google Scholar 

  138. Barshes NR, et al. Combined lung and liver transplantation: the United States experience. Transplantation. 2005;80(9):1161–7.

    Article  PubMed  Google Scholar 

  139. De Domenico I, Ward DM, Kaplan J. Hepcidin and ferroportin: the new players in iron metabolism. Semin Liver Dis. 2011;31(3):272–9.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  140. Pietrangelo A, Caleffi A, Corradini E. Non-HFE hepatic iron overload. Semin Liver Dis. 2011;31(3):302–18.

    Article  PubMed  CAS  Google Scholar 

  141. Evstatiev R, Gasche C. Iron sensing and signalling. Gut. 2012;61:933–52.

    Article  PubMed  CAS  Google Scholar 

  142. Donovan A, et al. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab. 2005;1(3):191–200.

    Article  PubMed  CAS  Google Scholar 

  143. Vaulont S, et al. Of mice and men: the iron age. J Clin Invest. 2005;115(8):2079–82.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  144. Pietrangelo A. Hepcidin in human iron disorders: therapeutic implications. J Hepatol. 2011;54(1):173–81.

    Article  PubMed  CAS  Google Scholar 

  145. Huang FW, et al. A mouse model of juvenile hemochromatosis. J Clin Invest. 2005;115(8):2187–91.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  146. Feder JN, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13(4):399–408.

    Article  PubMed  CAS  Google Scholar 

  147. Babitt JL, Lin HY. The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis. 2011;31(3):280–92.

    Article  PubMed  CAS  Google Scholar 

  148. Phatak PD, et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med. 1998;129(11):954–61.

    Article  PubMed  CAS  Google Scholar 

  149. Olynyk JK, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999;341(10):718–24.

    Article  PubMed  CAS  Google Scholar 

  150. Edwards CQ, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med. 1988;318(21):1355–62.

    Article  PubMed  CAS  Google Scholar 

  151. Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology. 2010;139(2):393–408, 408 e1–2.

    Article  PubMed  Google Scholar 

  152. Pietrangelo A. Juvenile hemochromatosis. J Hepatol. 2006;45(6):892–4.

    Article  PubMed  CAS  Google Scholar 

  153. Adams PC, Kertesz AE, Valberg LS. Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology. 1995;22(6):1720–7.

    PubMed  CAS  Google Scholar 

  154. Grove J, et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut. 1998;43(2):262–6.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  155. Bonkovsky HL, et al. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol. 1999;31(3):421–9.

    Article  PubMed  CAS  Google Scholar 

  156. Kowdley KV, et al. Utility of hepatic iron index in American patients with hereditary hemochromatosis: a multicenter study. Gastroenterology. 1997;113(4):1270–7.

    Article  PubMed  CAS  Google Scholar 

  157. Martin DR, Semelka RC. Magnetic resonance imaging of the liver: review of techniques and approach to common diseases. Semin Ultrasound CT MR. 2005;26(3):116–31.

    Article  PubMed  Google Scholar 

  158. Adams PC. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet. 1998;53(3):176–8.

    Article  PubMed  CAS  Google Scholar 

  159. Guyader D, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998;115(4):929–36.

    Article  PubMed  CAS  Google Scholar 

  160. Whitlock EP, et al. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006;145(3):209–23.

    Article  PubMed  Google Scholar 

  161. Kumpe DA, et al. Partial splenic embolization in children with hypersplenism. Radiology. 1985;155(2):357–62.

    PubMed  CAS  Google Scholar 

  162. Gehrke SG, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet. 2005;67(5):425–8.

    Article  PubMed  CAS  Google Scholar 

  163. Wolfe L, et al. Prevention of cardiac disease by subcutaneous deferoxamine in patients with thalassemia major. N Engl J Med. 1985;312(25):1600–3.

    Article  PubMed  CAS  Google Scholar 

  164. Nielsen P, et al. Liver iron stores in patients with secondary haemosiderosis under iron chelation therapy with deferoxamine or deferiprone. Br J Haematol. 1995;91(4):827–33.

    Article  PubMed  CAS  Google Scholar 

  165. Carneiro AA, et al. Liver iron concentration evaluated by two magnetic methods: magnetic resonance imaging and magnetic susceptometry. Magn Reson Med. 2005;54(1):122–8.

    Article  PubMed  CAS  Google Scholar 

  166. Brittenham GM, et al. Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. N Engl J Med. 1994;331(9):567–73.

    Article  PubMed  CAS  Google Scholar 

  167. Cabibbo S, et al. Chronic red blood cell exchange to prevent clinical complications in sickle cell disease. Transfus Apher Sci. 2005;32(3):315–21.

    Article  PubMed  Google Scholar 

  168. Cappellini MD, Musallam KM, Taher AT. Overview of iron chelation therapy with desferrioxamine and deferiprone. Hemoglobin. 2009;33 Suppl 1:S58–69.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Digestive Health Institute, University of Colorado SOM and Children’s Hospital Colorado, 13123 East 16th Ave, Aurora, CO, 80045, USA

    Michael R. Narkewicz MD

  2. Pediatric Gastroenterology, Children’s Hospital Colorado, Colorado Springs, CO, USA

    Christine Waasdorp Hurtado MD, MSCS, FAAP

Authors
  1. Michael R. Narkewicz MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christine Waasdorp Hurtado MD, MSCS, FAAP
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michael R. Narkewicz MD .

Editor information

Editors and Affiliations

  1. University of Washington School of Medicine, Seattle Children’s Hospital, Seattle, Washington, USA

    Karen F. Murray

  2. University of Washington School of Medicine, Seattle Children’s Hospital, Seattle, Washington, USA

    Simon Horslen

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Narkewicz, M.R., Hurtado, C.W. (2014). Metabolic Liver Disease: Part 2. In: Murray, K., Horslen, S. (eds) Diseases of the Liver in Children. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9005-0_9

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-9005-0_9

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9004-3

  • Online ISBN: 978-1-4614-9005-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation