Iron overload in porphyria cutanea tarda

Haematologica

Volumn 84, Issue 3, 1999, Pages 248-253

  Sampietro, Maurizio ^a   Fiorelli, Gemino ^a   Fargion, Silvia ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Hemochromatosis; Hepatitis; HFE; Iron; Liver disease; Porphyria; Porphyria cutanea tarda

Indexed keywords

IRON;

ARTICLE; DISEASE ASSOCIATION; DISEASE SEVERITY; GENOTYPE; HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; IRON OVERLOAD; LIVER DISEASE; MAJOR CLINICAL STUDY; PATHOGENESIS; PORPHYRIA CUTANEA TARDA; PREVALENCE;

DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE DETECTION; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; IRON; IRON OVERLOAD; MEMBRANE PROTEINS; PHLEBOTOMY; PORPHYRIA CUTANEA TARDA; RECEPTORS, TRANSFERRIN;

EID: 0032857432     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (65)

1. th ed. New York: McGraw-Hill, 1995. p. 2103-59.
2. De Verneuil H, Aitken G, Nordmann Y. Familial and sporadic porphyria cutanea tarda: two different diseases. Hum Genet 1978; 44:145-51.
3. Garey JR, Hansen JL, Kushner JP. A point mutation in the coding region ofuroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. Blood 1989; 73:892-5.
4. Kushner JP, Barbuto AJ, Lee GR. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J Clin Invest 1976; 58:1089-97.
5. Garey JR, Franklin KF, Brown DA, Harison LM, Metcalf KM, Kushner JP. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterology 1993; 105: 165-9.
6. Elder GH, Lee GB, Tovey JA. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. N Engl J Med 1978; 299: 274-8.
7. Elder GH, Urquhart AJ, De Salamanca RE, Munoz JJ, Bonkovsky HL. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet 1985; 1:229-32.
8. Hindmarsh JT. Enzyme heterogeneity in the porphyria. Clin Biochem 1990; 23:371-4.
9. Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta Med Scand 1970; 188:37-53.
10. Haberman HF, Rosemberg L, Menon LA. Porphyria cutanea tarda: comparison of cases precipitated by alcohol and estrogens. Can Med Assoc J 1975; 113: 633-55.
11. Rocchi E, Gibertini P, Cassanelli M, Pietrangelo A, Jensen J, Ventura E. Hepatitis B virus infection in porphyria cutanea tarda. Liver 1986; 6:153-7.
12. Fargion S, Piperno A, Cappellini MD, et al. Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 1992; 16:1322-6.
13. Lefkowitch JK, Grossman ME. Hepatic pathology in porphyria cutanea tarda. Liver 1983; 3:19-29.
14. Smith AG, Francis JE. Genetic variation of iron-induced uroporphyria in mice. Biochem J 1993; 291: 29-35.
15. Elder JH. Porphyria cutanea tarda: a multifactorial disease. In: Champion RH, Pye RJ, eds. Recent advances in dermatology. 8. Edinburgh: Churchill Livingstone, 1990. p. 55-70.
16. Berlin SO, Brante G. Iron metabolism in porphyria and haemochromatosis. Lancet 1962; 2:729.
17. Edwards CQ, Griffen LM, Goldgar DE, Skolnick MH, Kushner JP. HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda. Gastroenterology 1989; 97:972-81.
18. Lundvall O. The effect of phlebotomy therapy in porphyria cutanea tarda. Acta Med Scand 1971; 189:33-49.
19. Lundvall O. The effect of replenishment of iron stores after phlebotomy therapy in porphyria cutanea tarda. Acta Med Scand 1971; 189:51-63.
20. Adams PC, Powell LW. Porphyria cutanea tarda and HLA-linked hemochromatosis - All in the family? Gastroenterology 1987; 92:2033-5.
21. Fargion S, Fracanzani AL, Romano R, et al. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. J Hepatol 1996; 24:564-9.
22. Bonkovsky HL. Mechanism of iron-potentiation of hepatic uroporphyria: studies in cultured chicken embryo liver cells. Hepatology 1989; 10:354-64.
23. Elder GH, Roberts AG. Uroporphyrinogen decarboxylase. J Biomembr Bioenerg 1995; 27:207-14.
24. Bonkovsky HL, Sinclair PR, Sinclair JF. Hepatic heme metabolism and its control. Yale J Biol Med 1979; 52:13-37.
25. Chapman RW, Morgan MY, Laulicht M, Hoffbrand AV, Sherlock S. Hepatic iron stores and markers of iron overload in alcoholics and patients with hemochromatosis. Dig Dis Sci 1982; 27:909-16.
26. Di Bisceglie AM, Axiotis CA, Hoofnagle JH, Bacon BR. Measurements of iron status in patients with chronic hepatitis. Gastroenterology 1992; 102:2108-13.
27. Piperno A, D'Alba R, Fargion S, et al. Liver iron concentration in chronic viral hepatitis: a study of 98 patients. Eur J Gastroenterol Hepatol 1995; 7:1203-8.
28. Isomura T, Yano M, Hayashi H, Sakamoto N. Excess iron in the liver of patients with chronic hepatitis C. J Clin Electron Microsc 1992; 25:231-7.
29. Piperno A, D'Alba R, Roffi L, et al. Hepatitis C virus infection in patients with idiopatic hemochromatosis and porphyria cutanea tarda. Arch Virol 1992; 4:215-6.
30. Lacour JP, Bodokh I, Castanet J, Bekri S, Ortonne JP. Porphyria cutanea tarda and antibodies to hepatitis C virus. Br J Dermatol 1993; 128:121-3.
31. Herrero C, Vicente A, Bruguera M, et al. Is hepatitis C virus infection a trigger of porphyria cutanea tarda? Lancet 1993; 341:788-9.
32. Tavill AS, Bacon BR. Hemochromatosis: iron metabolism and the iron overload syndromes. In: Zakim D, Boyer T, eds. Hepatology. A textbook of liver disease. Philadelphia: Saunders & Co., 1990. p. 1273-99.
33. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977; 297:1017-21.
34. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988; 318:1355-62.
35. Velati C, Piperno A, Fargion S, Colombo S, Fiorelli G. Prevalence of idiopathic hemochromatosis in Italy: study of 1301 blood donors. Haematologica 1990; 75:309-12.
36. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996; 335:1799-805.
37. Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976; 17:332-4.
38. Kuntz BME, Goerz G, Merk H, Strohmeyer G, Bruster HT. HLA-A3 and B7 in porphyria cutanea tarda. Tissue Antigens 1984; 24:67-9.
39. Kushner JP, Edwards CQ, Dadone MM, Skolnick MH. Heterozygosity for HLA-linked hemochromatosis is a likely cause of hepatic siderosis associated with porphyria cutanea tarda. Gastroenterology 1985; 88: 1232-8.
40. Santoianni P, De Felice M, Ayala F, Budillon G, Zappacosta S. A novel association between HLA and disease: porphyria cutanea tarda and HLA-AW32. Dermatologica 1980; 160:371-5.
41. Uorente L, de Salamanca RE, Campillo F, Pena ML. HLA and porphyria cutanea tarda. Arch Dermatol Res 1980; 269:209-10.
42. Kostler VE, Gebhardt B, Seebacher C. HLA system und porphyria cutanea tarda. Dtsch Z Verdau Stoffwechselkr 1984; 44:95-100.
43. Beaumont C, Fauchet R, Phung LN, Verneuil HD, Gueguen M, Nordmann Y. Porphyria cutanea tarda and HLA-linked hemochromatosis: evidence against a systematic association. Gastroenterology 1987; 92: 1833-8.
44. Roberts AG, Whatley SD, Nicklin S, et al. The frequency of haemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda. Hepatology 1997; 25:159-61.
45. Raha-Chowdhury, Bowen DJ, Stone C, et al. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 1995; 4:1869-74.
46. Camaschella C, Piperno A. Hereditary hemochromatosis: recent advances in molecular genetics and clinical management. Haematologica 1997; 82:77-84.
47. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13:399-408.
48. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22:187-94.
49. Jazwinska EC, Cullen LM, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14:249-51.
50. Jouanolle AM, Gandon G, Jézéquel P, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14:251-2.
51. Beutler E. Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 1997; 349: 296-7.
52. Martinez PA, Biron C, Blanc F, et al. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease? Blood Cells Mol Dis 1997; 23:269-76.
53. Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998; 95:1472-7.
54. Waheed A, Parkkila S, Zhou XY, et al. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA 1997; 94:12384-9.
55. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349:321-3.
56. Stuart KA, Busfield F, Jazwinska EC, et al. The C282Y mutation in the hemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for pophyria cutanea tarda in Australian patients. J Hepatol 1998; 28:404-9.
57. Sampietro M, Piperno A, Lupica L, et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 1998; 27: 181-4.
58. Santos M, Clevers HC, Marks JJM. Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda. N Engl J Med 1997; 336: 1327-8.
59. Bonkowsky HL, Poh-Fitzpatrick M, Pimstone M, et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 1998;1661-9.
60. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997; 34:275-8.
61. Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60:828-32.
62. Piperno A, Sampietro M, Pietrangelo A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998; 114:996-1002.
63. Borot N, Roth MP, Malfroy L, et al. Mutation in the MHC class I-like candidate gene for hemochromatosis. Immunogenetics 1997; 45:320-4.
64. Murphy A, Dooley S, Hillary IB, Murphy GM. HCV infection in porphyria cutanea tarda. Lancet 1993; 341:1534-5.
65. Stölzel U, Kostler E, Koszka C, et al. Low prevalence of hepatitis virus infection in porphyria cutanea tarda in Germany. Hepatology 1995; 21:1500-3.