About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 697940, 7 pages
http://dx.doi.org/10.1155/2013/697940
Review Article

An Update on Laboratory Diagnosis of Liver Inherited Diseases

1Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy
2CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Naples, Italy
3Università Telematica Pegaso, Naples, Italy
4Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy

Received 2 July 2013; Accepted 26 August 2013

Academic Editor: Fumio Imazeki

Copyright © 2013 Federica Zarrilli et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. Pietrangelo, “Inherited metabolic disease of the liver,” Current Opinion in Gastroenterology, vol. 25, no. 3, pp. 209–214, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. A. Ala and M. Schilsky, “Genetic modifiers of liver injury in hereditary liver disease,” Seminars in Liver Disease, vol. 31, no. 2, pp. 208–214, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. N. Ovchinsky, R. K. Moreira, J. H. Lefkowitch, and J. E. Lavine, “Liver biopsy in modern clinical practice: a pediatric point-of-view,” Advances in Anatomic Pathology, vol. 19, pp. 250–262, 2012.
  4. P. de Bie, P. Muller, C. Wijmenga, and L. W. J. Klomp, “Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes,” Journal of Medical Genetics, vol. 44, no. 11, pp. 673–688, 2007. View at Publisher · View at Google Scholar · View at Scopus
  5. M. L. Schilsky, “Wilson disease: current status and the future,” Biochimie, vol. 91, no. 10, pp. 1278–1281, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. R. Rosencrantz and M. Schilsky, “Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment,” Seminars in Liver Disease, vol. 31, no. 3, pp. 245–259, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. K. H. Weiss and W. Stremmel, “Evolving perspectives in Wilson disease: diagnosis, treatment and monitoring,” Current Gastroenterology Reports, vol. 14, no. 1, pp. 1–7, 2012. View at Publisher · View at Google Scholar · View at Scopus
  8. E. A. Roberts and M. L. Schilsky, “Diagnosis and treatment of Wilson disease: an update,” Hepatology, vol. 47, no. 6, pp. 2089–2111, 2008. View at Publisher · View at Google Scholar · View at Scopus
  9. D. Huster, W. Hermann, and M. Bartels, “Acute Wilson disease,” Internist, vol. 52, no. 7, pp. 815–822, 2011. View at Publisher · View at Google Scholar · View at Scopus
  10. D. Huster, “Wilson disease,” Best Practice & Research Clinical Gastroenterology, vol. 24, pp. 531–539, 2010.
  11. V. Lalioti, I. Sandoval, D. Cassio, and J. Duclos-Vallée, “Molecular pathology of Wilson's disease: a brief,” Journal of Hepatology, vol. 53, no. 6, pp. 1151–1153, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Johncilla and K. A. Mitchell, “Pathology of the liver in copper overload,” Seminars in Liver Disease, vol. 31, no. 3, pp. 239–244, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. S. K. Das and K. Ray, “Wilson’s disease: an update,” Nature Clinical Practice Neurology, vol. 2, pp. 482–493, 2006.
  14. M. L. Schilsky and A. Ala, “Genetic testing for Wilson disease: availability and utility,” Current Gastroenterology Reports, vol. 12, no. 1, pp. 57–61, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. J. Bennett and S. H. Hahn, “Clinical molecular diagnosis of Wilson disease,” Seminars in Liver Disease, vol. 31, no. 3, pp. 233–238, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. E. Maillard, “Epidemiology, natural history and pathogenesis of hepatocellular carcinoma,” Cancer/Radiotherapie, vol. 15, no. 1, pp. 3–6, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. E. P. Whitlock, B. A. Garlitz, E. L. Harris, et al., “Screening for hereditary hemochromatosis: a systematic review for the U.S. preventive services task force,” Annals of Internal Medicine, vol. 145, no. 3, pp. 209–223, 2006. View at Scopus
  18. B. R. Bacon, P. C. Adams, K. V. Kowdley, L. W. Powell, and A. S. Tavill, “Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the study of liver diseases,” Hepatology, vol. 54, no. 1, pp. 328–343, 2011. View at Publisher · View at Google Scholar · View at Scopus
  19. A. M. Jouanolle, V. Gérolami, C. Ged, et al., “Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France,” Annales de Biologie Clinique, vol. 70, pp. 305–313, 2012.
  20. C. J. McDonald, D. F. Wallace, D. H. Crawford, and V. N. Subramaniam, “Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations,” Journal of Gastroenterology and Hepatology, vol. 28, pp. 1087–1094, 2013.
  21. A. Geier, C. Gartung, I. Theurl et al., “Occult celiac disease prevents penetrance of hemochromatosis,” The World Journal of Gastroenterology, vol. 11, no. 21, pp. 3323–3326, 2005. View at Scopus
  22. C. Whittington, “The C282Y mutation may have been positively selected as it mitigates the infertility of celiac disease,” Medical Hypotheses, vol. 66, no. 4, pp. 769–772, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. J. F. Ludvigsson, J. A. Murray, P. C. Adams, and M. Elmberg, “Does hemochromatosis predispose to celiac disease?” Scandinavian Journal of Gastroenterology, vol. 48, pp. 176–182, 2013.
  24. J. Rochette, G. Le Gac, K. Lassoued, C. Férec, and K. J. H. Robson, “Factors influencing disease phenotype and penetrance in HFE haemochromatosis,” Human Genetics, vol. 128, no. 3, pp. 233–248, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. P. C. Adams, D. M. Reboussin, R. D. Press et al., “Biological variability of transferrin saturation and unsaturated iron-binding capacity,” American Journal of Medicine, vol. 120, no. 11, pp. 999.e1–999.e7, 2007. View at Publisher · View at Google Scholar · View at Scopus
  26. P. C. Adams, D. M. Reboussin, J. C. Barton et al., “Hemochromatosis and iron-overload screening in a racially diverse population,” The New England Journal of Medicine, vol. 352, no. 17, pp. 1769–1778, 2005. View at Publisher · View at Google Scholar · View at Scopus
  27. G. Fortunato, G. Castaldo, G. Oriani et al., “Multivariate discriminant function, based on six biochemical markers in blood can predict the cirrhotic evolution of chronic hepatitis,” Clinical Chemistry, vol. 47, no. 9, pp. 1696–1700, 2001. View at Scopus
  28. F. D. Raymond, G. Fortunato, D. W. Moss, G. Castaldo, F. Salvatore, and M. Impallomeni, “Inositol-specific phospholipase D activity in health and disease,” Clinical Science, vol. 86, no. 4, pp. 447–451, 1994. View at Scopus
  29. G. Castaldo, G. Oriani, M. M. Lofrano et al., “Differential diagnosis between hepatocellular carcinoma and cirrhosis through a discriminant function based on results for serum analytes,” Clinical Chemistry, vol. 42, no. 8, pp. 1263–1269, 1996. View at Scopus
  30. A. Piperno, “Molecular diagnosis of hemochromatosis,” Expert Opinion on Medical Diagnostics, vol. 7, pp. 161–177, 2013.
  31. A. Del-Castillo-Rueda, M. I. Moreno-Carralero, N. Cuadrado-Grande et al., “Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis,” Gene, vol. 508, pp. 15–20, 2012.
  32. P. C. Santos, J. E. Krieger, and A. C. Pereira, “Molecular diagnostic and pathogenesis of hereditary hemochromatosis,” International Journal of Molecular Sciences, vol. 13, no. 2, pp. 1497–1511, 2012. View at Publisher · View at Google Scholar · View at Scopus
  33. I. M. Nadakkavukaran, E. K. Gan, and J. K. Olynyk, “Screening for hereditary haemochromatosis,” Pathology, vol. 44, no. 2, pp. 148–152, 2012. View at Publisher · View at Google Scholar · View at Scopus
  34. M. L. Bassett, P. E. Hickman, and J. E. Dahlstrom, “The changing role of liver biopsy in diagnosis and management of haemochromatosis,” Pathology, vol. 43, no. 5, pp. 433–439, 2011. View at Publisher · View at Google Scholar · View at Scopus
  35. A. Castiella, E. Zapata, and J. M. Alústiza, “Non-invasive methods for liver fibrosis prediction in hemochromatosis: one step beyond,” World Journal of Hepatology, vol. 2, pp. 251–255, 2010.
  36. C. B. Sirlin and S. B. Reeder, “Magnetic resonance imaging quantification of liver iron,” Magnetic Resonance Imaging Clinics of North America, vol. 18, no. 3, pp. 359–381, 2010. View at Publisher · View at Google Scholar · View at Scopus
  37. L. Fregonese and J. Stolk, “Hereditary alpha-1-antitrypsin deficiency and its clinical consequences,” Orphanet Journal of Rare Diseases, vol. 3, no. 1, article 16, 2008. View at Publisher · View at Google Scholar · View at Scopus
  38. S. K. Brode, S. C. Ling, and K. R. Chapman, “Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease,” Canadian Medical Association Journal, vol. 184, pp. 1365–1371, 2012.
  39. K. D. Fairbanks and A. S. Tavill, “Liver disease in alpha 1-antitrypsin deficiency: a review,” American Journal of Gastroenterology, vol. 103, no. 8, pp. 2136–2141, 2008. View at Publisher · View at Google Scholar · View at Scopus
  40. R. Valverde, B. Rosales, F. J. Ortiz-de Frutos, J. L. Rodríguez-Peralto, and P. L. Ortiz-Romero, “Alpha-1-antitrypsin deficiency panniculitis,” Dermatologic Clinics, vol. 26, no. 4, pp. 447–451, 2008. View at Publisher · View at Google Scholar · View at Scopus
  41. A. Kaplan and L. Cosentino, “α1-antitrypsin deficiency: forgotten etiology,” Canadian Family Physician, vol. 56, no. 1, pp. 19–24, 2010. View at Scopus
  42. R. Bals, “Alpha-1-antitrypsin deficiency,” Best Practice and Research, vol. 24, no. 5, pp. 629–633, 2010. View at Publisher · View at Google Scholar · View at Scopus
  43. E. K. Silverman and R. A. Sandhaus, “Alpha1-antitrypsin deficiency,” The New England Journal of Medicine, vol. 360, no. 26, pp. 2749–2757, 2009. View at Publisher · View at Google Scholar · View at Scopus
  44. B. J. Rosenstein and G. R. Cutting, “The diagnosis of cystic fibrosis: a consensus statement,” Journal of Pediatrics, vol. 132, no. 4, pp. 589–595, 1998. View at Publisher · View at Google Scholar · View at Scopus
  45. C. Bombieri, M. Claustres, K. de Boeck et al., “Recommendations for the classification of diseases as CFTR-related disorders,” Journal of Cystic Fibrosis, vol. 10, no. 2, pp. S86–S102, 2011. View at Publisher · View at Google Scholar · View at Scopus
  46. D. Debray, D. Kelly, R. Houwen, B. Strandvik, and C. Colombo, “Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease,” Journal of Cystic Fibrosis, vol. 10, no. 2, pp. S29–S36, 2011. View at Publisher · View at Google Scholar · View at Scopus
  47. M. Rowland and B. Bourke, “Liver disease in cystic fibrosis,” Current Opinion in Pulmonary Medicine, vol. 17, no. 6, pp. 461–466, 2011. View at Publisher · View at Google Scholar · View at Scopus
  48. G. Castaldo, E. Rippa, D. Salvatore et al., “Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation,” American Journal of Medical Genetics, vol. 69, pp. 155–158, 1997.
  49. G. Castaldo, A. Fuccio, D. Salvatore, et al., “Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype,” American Journal of Medical Genetics, vol. 98, pp. 294–297, 2001.
  50. F. Salvatore, O. Scudiero, and G. Castaldo, “Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes,” American Journal of Medical Genetics, vol. 111, no. 1, pp. 88–95, 2002. View at Publisher · View at Google Scholar · View at Scopus
  51. R. Tomaiuolo, D. Degiorgio, D. A. Coviello et al., “An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study,” Digestive and Liver Disease, vol. 41, no. 11, pp. 817–822, 2009. View at Publisher · View at Google Scholar · View at Scopus
  52. J. R. Bartlett, K. J. Friedman, S. C. Ling et al., “Genetic modifiers of liver disease in cystic fibrosis,” Journal of the American Medical Association, vol. 302, no. 10, pp. 1076–1083, 2009. View at Publisher · View at Google Scholar · View at Scopus
  53. F. Amato, C. Bellia, G. Cardillo et al., “Extensive molecular analysis of patients bearing CFTR-related disorders,” Journal of Molecular Diagnostics, vol. 14, no. 1, pp. 81–89, 2012. View at Publisher · View at Google Scholar · View at Scopus
  54. R. Tomaiuolo, P. Nardiello, P. Martinelli, L. Sacchetti, F. Salvatore, and G. Castaldo, “Prenatal diagnosis of cystic fibrosis: an experience of 181 cases,” Clinical Chemistry and Laboratory Medicine, vol. 11, pp. 1–6, 2013. View at Publisher · View at Google Scholar
  55. A. Elce, A. Boccia, G. Cardillo et al., “Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis,” Clinical Chemistry, vol. 55, no. 7, pp. 1372–1379, 2009. View at Publisher · View at Google Scholar · View at Scopus
  56. R. Tomaiuolo, M. Spina, and G. Castaldo, “Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures,” Clinical Chemistry and Laboratory Medicine, vol. 41, no. 1, pp. 26–32, 2003. View at Publisher · View at Google Scholar · View at Scopus
  57. G. Castaldo, A. Fuccio, C. Cazeneuve et al., “Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterization for patients with homozygote mutations,” Clinical Chemistry, vol. 45, no. 7, pp. 957–962, 1999. View at Scopus
  58. G. Castaldo, A. Polizzi, R. Tomaiuolo et al., “Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population,” Annals of Human Genetics, vol. 69, no. 1, pp. 15–24, 2005. View at Publisher · View at Google Scholar · View at Scopus
  59. G. Castaldo, F. Lembo, and R. Tomaiuolo, “Molecular diagnostics: between chips and customized medicine,” Clinical Chemistry and Laboratory Medicine, vol. 48, no. 7, pp. 973–982, 2010. View at Publisher · View at Google Scholar · View at Scopus
  60. R. Tomaiuolo, F. Sangiuolo, C. Bombieri et al., “Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study,” Journal of Cystic Fibrosis, vol. 7, no. 5, pp. 347–351, 2008. View at Publisher · View at Google Scholar · View at Scopus
  61. S. Giordano, F. Amato, A. Elce, et al., “Molecular and functional analysis of the large 5′ promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders,” The Journal of Molecular Diagnostics, vol. 15, pp. 331–340, 2013.
  62. F. Amato, M. Seia, S. Giordano et al., “Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?” PloS ONE, vol. 8, no. 3, Article ID e60448, 2013.