Protoporphyria

Seminars in Liver Disease

Volumn 18, Issue 1, 1998, Pages 85-93

  Cox, Timothy M ^a   Alexander, Graeme J M ^a   Sarkany, Robert P E ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Cholestasis; Hepatopathy; Liver failure; Protoporphyrin

Indexed keywords

CAPILLARY BASEMENT MEMBRANE; CHOLESTASIS; COMPLEMENT ACTIVATION; ERYTHROPOIETIC PROTOPORPHYRIA; GALLSTONE; HUMAN; LIVER DISEASE; LIVER FAILURE; PATHOGENESIS; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVIEW; SCAR FORMATION; SKIN PIGMENTATION;

EID: 0031913839     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1007144     Document Type: Review

References (70)

1. Magnus IA, Jarrett A, Prankerd TAJ, Rimington C Erythropoietic protoporphyria: a new porphyria syndrome with solar urticaria due to protoporphyrinaemia. Lancet 1961,2 448-451
2. Deleo VA, Poh-Fitzpatrick MB, Matthews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med 1976;60:8-22
3. Baart de la Faille H, Bijlmer-Iest JC, van-Hattum J, et al Erythropoietic protoporphyria: clinical aspect? with emphasis on the skin. Curr Probl Dermatol 1991,20.123-134
4. Alison AC, Magnus IA, Young MR. Role of lysosomes and of cell membranes in photosensitization. Nature 1966;209:874-878
5. Lim HW, Poh-Fitzpatrick MB, Gigli I. Activation of the complement system in patients with porphyrias after irradiation in vivo. J Clin Invest 1984;74:1961-1965
6. Poh-Fitzpatrick MB. Porphynn-sensitized cutaneous photosensitivity: pathogenesis and treatment Clin Dermatol 1985;3: 41-82
7. Bloomer JR. The liver in protoporphyria. Hepatology 1988;8: 402-407
8. Mooyart BR, de Jong GM Th, van der Veen S et al. Hepatic disease in erythropoietic protoporphyria. Dermatologia 1986;173: 120-130
9. Doss MD, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20 year study. Clin Biochem 1989;22: 223-229
10. Sarkany RPE, Cox TM. Autosomal recessive erythropoietic protoporphyria. a syndrome of photosensitivity and liver failure. Quart J Med 1995;88:541-549
11. Key NS, Rank JM, Freese D, et al. Hemolytic anemia in protoporphyria. possible precipitating role of liver failure and photic stress. Am J Hematol 1992;39:202-207
12. Barnes HD, Hurworth E, Millar JHD. Erythropoietic porphyrin hepatitis. J Clin Pathol 1968;21:157-159
13. Thompson RPH, Molland EA, Nicholson DC, Gray CH. Erythropoietic protoporphyria and cirrhosis in sisters. Gut 1973; 14:934-938
14. Polson RJ, Lim CK, Rolles K, et al. The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. Transplantation 1988;46:386-389
15. Mion FB, Faure JL, Berger F, et al. Liver transplantation for erythropoietic protoporphyria Report of a new case with subsequent medium-term follow-up. J Hepatol 1992;16.203-207
16. MacDonald DM, Germain D, Perrot H. The histopathology and ultrastructure of liver disease in erythropoietic protoporphyria. Br J Dermatol 1981;104 7-17
17. Klatskin G, Bloomer JR Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity and sensitivity of polarization microscopy in the identification of hepatic porphyrin deposits. Gastroenterology 1974;67:294-302
18. Matilla A, Molland EA. A light and electron microscopic study of the liver in case of erythropoietic protoporphyria and in griseofulvin-induced porphyria in mice. J Clin Path 1974;27:698-709
19. Brun A, Hording G, Romslo I. Protoporphyrin-induced photohemolysis: differences related to the subcellular distribution of protoporphyrin in erythropoietic protoporphyria and when added to normal cells. Int J Biochem 1981;13:225-228
20. Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts J Clin Invest 1975;56:1139-1148
21. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and molecular bases of inherited disease. Volume II 7th ed. New York, McGraw-Hill, 1995. pp 2103-2159
22. Reed WB, Wuepper KD, Epstem JH, et al. Erythropoietic protoporphyria - a clinical and genetic study. J Am Med Assoc. 1970;214:1060-1066
23. Went L, Klasen EC Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984;48:105-117
24. Bloomer JR, Bonkowsky HL, Eben PS, Mahoney MJ. Inheritance in protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features. Lancet 1976;11:226-228
25. Norris PG, Nunn AV, Hawk JLM, Cox TM. Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol 1990;95:260-263
26. Lamoril J, Boulechfar S, de Verneuil H et al. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Comm 1991;181:594-599
27. Sarkany RPE, Alexander GJM, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994;343:1394-1396 Goerz G, Bolsen K, Bunselmeyer S, Schürer NY. idem 1994;344:337
28. Sarkany RPE, Alexander GJM, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994;343:1394-1396 Goerz G, Bolsen K, Bunselmeyer S, Schürer NY. idem 1994;344:337
29. Sarkany RPE, Whitcombe DM, Cox TM. Molecular characterization of ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 1994;102:481-484
30. Gouya L, Deybach J-C, Lamoril J, et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 1996;58:292-299
31. Straka JG, Bloomer JR, Kempner ES. The functional size of ferrochelatase determined in situ by radiation inactivation J Biol Chem 1991;266:24637-24641
32. Nakahashi Y, Taketani S, Okuda M, et al Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. Biochem Biophys Res Commun 1990;173:748-755
33. Whitcombe DM, Carter NP, Albertson DG, et al. Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics 1991;11:1152-1154
34. Whitcombe DM, Albertson DG, Cox TM. Molecular analysis of functional and non-functional genes for human ferrochelatase. Isolation and characterization of a FECH pseudogene and its sub-localization on chromosome 3. Genomics 1994;20:482-486
35. Dailey HA, Sellers VM, Dailey TA. Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases. J Biol Chem 1994,269:390-395
36. Tutois S, Montagutelli X, Da-Silva V, et al. Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity and liver disease. J Clin Invest 1991;88:1730-1736
37. de Verneuil H, Ged C, Boulechfar S, Moreau-Gaudry F. Porphyrias: animal models and prospects for cellular and gene therapy. J Bioenerg Biomembr 1995;27 239-248
38. Elder GH, Smith SG, Smyth SJ. Laboratory investigation of the porphyrias. Ann Clin Biochem 1990;27:395-412
39. Nunn AVW, Norris P, Hawk JLM, Cox TM, Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria. Anal Biochem 1988;174:146-150
40. Pimstone NR, Ghandi SN, Mukerji SK. Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. N Engl J Med 1987;316-390-393
41. Stathers GM Porphyrin-binding effect of cholestyramine. Results of in vitro and in vivo studies. Lancet 1966;2:780-783
42. Samuel D, Boboc B, Bernau J, et al. Hepatic transplantation for protoporphyria. Evidence for a predominant role of the erythropoietic tissue in protoporphyrin overproduction. Gastroenterology 1988;95:816-819
43. Bloomer JR, Rank JM, Payne WD. Follow-up after liver transplantation for protoporphyric liver disease. Liver Transpl Surg 1996;2:269-275
44. de Torres I, Demetris AJ, Randhawa PS. Recurrent hepatic allograft injury in erythropoietic protoporphyria. Transplantation 1996;61 1412-1413
45. Avner DL, Berenson MM. Effect of cholcretics on canalicular transport of protoporphyria in the rat liver. Am J Physiol 1982; 242:G347-G353
46. McCullough AJ, Barron D, Mullen KD, et al Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile and feeding. Gastroenterology 1988,94: 177-181
47. Corbett MF, Herxheimer A, Magnus IA, et al. The long-term treatment with β-carotene in erythropoietic protoporphyria: a controlled trial. Brit J Dermatol 1977;97:655-662
48. Dobozy A, Csató M, Siklósi C, Simon N Transfusion therapy for erythropoietic protoporphyria. Brit J Dermatol 1983;109: 571-576
49. van Wijk HJ, van Hattum J, Baart de le Faille H, et al. Blood exchange and transfusion therapy for acute cholestasis in protoporphyria. Dig Dis Sci 1988;33:1621-1625
50. Gardner LC, Smith SJ, Cox TM. Biosynthesis of δ-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man. J Biol Chem 1991;266:22010-22018
51. Bloomer JR, Pierach CA. Effect of hematin administration to patients with protoporphyria and liver disease. Hepatology 1982; 2:817-821
52. Meerman L, Verwer R, Sloof MJH, et al. Perioperative measures during liver transplantation for erythropoietic protoporphyria. Transplantation 1994;57:155-158
53. Kauffman L, Evans DIK, Stevens RF, Weincove C. Bone marrow transplantation for congenital erythropoietic porphyria. Lancet 1991;337:1510-1511
54. Piomelli S, Poh-Fitzpatrick MB, Seaman C, et al. Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. N Engl J Med 1986;314:1029-1032
55. Mathews-Roth MM, Wise RJ, Miller BA. Burst-forming unitserythroid from erythropoietic protoporphyria patients fluoresce under 405 nm light. Blood 1996;87:4480-4481
56. Herbert A, Corbin D, Williams A, et al. Erythropoietic protoporphyria: unusual skin and neurological problems after transplantation. Gastroenterology 1991;100:1753-1757
57. Rank JM, Carithers R, Bloomer JR. Evidence for neurological dysfunction in end-stage protoporphyric liver disease Hepatology 1993;18:1404-1409
58. Brenner DA, Didier JM, Frasier F, et al. A molecular defect in human protoporphyria. Am J Hum Genet 1992;50.1203-1210
59. Imoto S, Tanizawa y, Sato Y, et al. A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria Br J Haematol 1996,94:191-197
60. Nakahashi Y, Fujita H, Taketani S, et al. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sci USA 1992;89:281-285
61. Nakahashi Y, Miyazaki H, Kadota Y, et al. Molecular defect in human erythropietic protoporphyria with fatal liver failure. Hum Genet 1993;91:303-306
62. Wang X, Poh-Fitzpatrick M, Carriero D, et al. A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. Biochim Biophys Acta 1993;1181:198-200
63. Sarkany RP, Whitcombe DM, Cox TM. Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 1994;102:481-484
64. Wang X, Poh-Fitzpatrick M, Piomelli S. A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria. Biochim Biophys Acta 1994;1227:25-27
65. Wang X, Poh-Fitzpatrick M, Chen T, et al. Systematic screening for RNA with skipped exons - splicing mutations of the ferrochelatase gene. Biochim Biophys Acta 1995,1271:358-362
66. Schneider-Yin X, Schafer BW, Mohr P, et al. Molecular defects in erythropoietic protoporphyria with terminal liver failure. Hum Genet 1994;93:711-713
67. Henriksson M, Timoncn K, Mustajoki P, et al. Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. J Invest Dermatol 1996;106:346-350
68. Schneider-Yin X, Schafer BW, Tonz O, Minder EI. Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyna and an isoform caused by alternative splicing. Hum Genet 1995;95:391-396
69. Todd DJ, Hughes AE, Ennis KT, et al. Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria. Hum Mol Genet 1993;9:1495-1496
70. Magness ST, Tugores A, Christensen SR, et al. Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet 1994;3.1695-1697