- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Annual Issues
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Reviewers Acknowledgment
- Submit a Manuscript
- Subscription Information
- Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 697940, 7 pages
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.
- A. Pietrangelo, “Inherited metabolic disease of the liver,” Current Opinion in Gastroenterology, vol. 25, no. 3, pp. 209–214, 2009.
- 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.
- 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.
- 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.
- M. L. Schilsky, “Wilson disease: current status and the future,” Biochimie, vol. 91, no. 10, pp. 1278–1281, 2009.
- 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.
- 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.
- E. A. Roberts and M. L. Schilsky, “Diagnosis and treatment of Wilson disease: an update,” Hepatology, vol. 47, no. 6, pp. 2089–2111, 2008.
- D. Huster, W. Hermann, and M. Bartels, “Acute Wilson disease,” Internist, vol. 52, no. 7, pp. 815–822, 2011.
- D. Huster, “Wilson disease,” Best Practice & Research Clinical Gastroenterology, vol. 24, pp. 531–539, 2010.
- 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.
- 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.
- S. K. Das and K. Ray, “Wilson’s disease: an update,” Nature Clinical Practice Neurology, vol. 2, pp. 482–493, 2006.
- 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.
- J. Bennett and S. H. Hahn, “Clinical molecular diagnosis of Wilson disease,” Seminars in Liver Disease, vol. 31, no. 3, pp. 233–238, 2011.
- E. Maillard, “Epidemiology, natural history and pathogenesis of hepatocellular carcinoma,” Cancer/Radiotherapie, vol. 15, no. 1, pp. 3–6, 2011.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- A. Piperno, “Molecular diagnosis of hemochromatosis,” Expert Opinion on Medical Diagnostics, vol. 7, pp. 161–177, 2013.
- 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.
- 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.
- I. M. Nadakkavukaran, E. K. Gan, and J. K. Olynyk, “Screening for hereditary haemochromatosis,” Pathology, vol. 44, no. 2, pp. 148–152, 2012.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- A. Kaplan and L. Cosentino, “α1-antitrypsin deficiency: forgotten etiology,” Canadian Family Physician, vol. 56, no. 1, pp. 19–24, 2010.
- R. Bals, “Alpha-1-antitrypsin deficiency,” Best Practice and Research, vol. 24, no. 5, pp. 629–633, 2010.
- E. K. Silverman and R. A. Sandhaus, “Alpha1-antitrypsin deficiency,” The New England Journal of Medicine, vol. 360, no. 26, pp. 2749–2757, 2009.
- 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.
- 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.
- 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.
- M. Rowland and B. Bourke, “Liver disease in cystic fibrosis,” Current Opinion in Pulmonary Medicine, vol. 17, no. 6, pp. 461–466, 2011.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.