Genetic liver disease in adults: Early recognition of the three most common causes

Postgraduate Medicine

Volumn 107, Issue 2, 2000, Pages 147-159

  Morrison, Elizabeth D ^a   Kowdley, Kris V ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; IRON; TRANSFERRIN;

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; AUTOSOMAL RECESSIVE DISORDER; CLINICAL PRACTICE; CONFERENCE PAPER; DISEASE ASSOCIATION; EARLY DIAGNOSIS; GENE MUTATION; GENETIC DISORDER; GENETIC RISK; HEMOCHROMATOSIS; HUMAN; LIVER BIOPSY; LIVER DISEASE; PATHOPHYSIOLOGY; PATIENT CARE; PENETRANCE; PHENOTYPE; PHLEBOTOMY; QUALITY OF LIFE; URINARY EXCRETION; WILSON DISEASE;

EID: 0033967750     PISSN: 00325481     EISSN: None     Source Type: Journal    
DOI: 10.3810/pgm.2000.02.872     Document Type: Conference Paper

References (19)

1. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LJ, ed. Major problems in internal medicine. Philadelphia: Saunders, 1984:1-171
2. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993;197:271-7
3. Thomas GR, Forbes JR, Roberts E, et al. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995;9:210-7
4. Shash AB, Chernov I, Zhang HT, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997;61:317-28
5. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993;5:344-50
6. Niederau C, Fischer R, Sonnenberg A, et al. Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985;313:1256-62
7. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class 1-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996;13:399-408
8. Adams PC, Chakrabarti S, Genotypic/phenotypic correlations in genetic hemochromatosis evolution of diagnostic criteria. Gastroenterology 1998;113:319-23
9. Bacon BR, Schilsky ML. New knowledge of genetic pathogenesis of hemochromatosis and Wilson's disease. Adv Intern Med 1999; 44:91-116
10. Bulaj Z, Griffen L, Jorde L, et al. Clinical and biochemical abnormalities in people heterozygous for hereditary hemochromatosis. N Engl J Med 1996;335:1799-805
11. Bacon BR, Powell LW, Adams PC, et al. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 1999; 116:193-207
12. Kowdley KV, Trainer T, Saltzman JR, et al. Utility of hepatic iron index in American patients with hereditary hemochromatosis: a multicenter study. Gastroentetology 1997;113:1270-7
13. Bacon BR, Sadiq S. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 1997;92:784-9
14. Powell LW, George DK, McDonnell SM, et al. Diagnosis of hemochromatosis. Ann Intern Med 1998;129(11):925-31
15. Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929-36
16. Fracanani A, Fargion S, Romano R, et al. Portal hypertension and iron deposition in patients with genetic hemochromatosis. Hepatology 1995;22(4 Pt 1):1127-31
17. Kowdley KV, Hassanein T, Kaur S, et al. Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis. Liver Transplant Surg 1995;1:237-41
18. 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294:1316-21
19. Esquivel C, Marino I, Fioravanti V, et al. Liver transplantation for metabolic disease of the liver. Gastroenterol Clin North Am 1988;17:167-75