94
Views
51
CrossRef citations to date
0
Altmetric
Research Article

Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria - diagnosis, care and monitoring of the patient

Pages 581-604 | Published online: 08 Jul 2009

REFERENCES

  • Kosenow W, Treibs A. Lichtilberempfindlichkeit und Porphyrindmi. Z Kinderheilkd 1953; 73: 82–92.
  • Magnus IA, Jarret A, Prankerd TAJ, Rimington C. Erythropoietic protoporphyria. A new por-phyria syndrome with solar urticaria due to protoporphyrinemia. Lancet 1961; II: 448–51.
  • Haeger-Aronsen B. Erythropietic protoporphyria: a new type of inborn error of metabolism. Am J Med 1963; 35: 450–4.
  • Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131: 751–66.
  • Reed WB, Wuepper KD, Epstein JH, Redeker A, Simonsson RJ, Mc Kusick VA. Erythropoietic protoporphyria. A clinical and genetic study. JAMA 1970; 214: 1060–6.
  • Cox TM, Alexander GJ, Sarkany RP. Protopor-phyria. Semin Liver Dis 1998; 18: 85–93.
  • Went LN, Klasen EC. Genetic aspects of ery-thropoietic protoporphyria. Ann Hum Genet 1984; 48: 105–17.
  • De Leo VA, Poh Fitzpatrick MB, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med 1976; 60: 8–22.
  • Schmidt H, Snitker G, Thomsen K, Lintrup J. Erythropoietic protoporphyria: a clinical study based on 29 cases in 14 families. Arch Dermatol 1974; 110: 58–64.
  • Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ. Heme synthetase deficiency in human proto-porphyria: demonstration of the defects in liver and cultured fibroblasts. J Clin Invest 1975; 56: 1139— 48.
  • Nakahashi Y, Taketani S, Okuda M, Inoue K, Tokunage R. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. Biochem Biophys Res Commun 1990; 173: 748–55.
  • Taketani S, Inazava J, Abe T, Nakahashi Y, Tokunaga R. Structure of the human ferrochela-tase gene. Exon/intron gene organization and location of the gene to chromosome 18. Eur J Biochem 1992; 205: 217–22.
  • Todd DJ. Clinical implications of the molecular biology of erythropoietic protoporphyria. J Eur Acad Dermatol Venereol 1998; 11: 207— 13.
  • Rufener E. Erythropoietic protoporphyria: a study of its psychosocial aspects. Br J Derm 1987; 116: 703–8.
  • Poh-Fitzpatrik MB. The priming phenomenon in the acute phototoxicity of erythropoietic proto-porphyria. J Am Acad Dermatol 1989; 21: 311.
  • Baart de la Faille H, Bijlmer JC, van Hattum J, Koningsberger J, Rademakers LH, van Welden H. Erythropoietic protoporphyria. Clinical aspects with emphasis on the skin. In: Vermeer BJ, Wuepper KD, van Vloten WA, Baart de la Faille H, Vermeer BJ, Wuepper KD, Vloten WA van, Baart de la Faille H, vanb der Schroeff JG, editors. Metabolic disorders and nutrition corre-lated with skin. Curr Probl Dermatol 1991; 20: 123–34.
  • Schnait GF, Wolff K, Konrad K. Erythropoietic protoporphyria — submicroscopic events during the acute photosensitivity flare. Br J Dermatol 1975; 92: 545–57.
  • Wolff K, H6ningsmann H, Rauschmeier W, Schuler G, Pechlaner R. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol (Stockh) 1982; Suppl 100: 17–28.
  • Höningsmann H, Schnait GF, Konrad F, Stingl G, Wolff K. Mouse model for protoporphyria. III. Experimental production of chronic erythropoietic protoporphyria skin lesions. J Invest Dermatol 1976; 66: 188–95.
  • Redeker AG, Bronow RS, Sterling RE. Erythro-poietic protoporphyria. S Afr J Lab Clin Med 1963; 9: 235–8.
  • Runge WJ, Fusaro RM. Erythropoietic proto-porphyria IV. The synergistic effects of ultraviolet and infrared radiation and protection against these wavelengths. Acta Derm Venereol 1971; 51: 55–8.
  • Gogh van H, Schothorst AA. Determination of very small amounts of protoporphyrin in epider-mis, plasma and blister fluids. J Invest Dermatol 1973; 61: 42–5.
  • Miura T, Torinuki W, Morihana Y. A high skin protoporphyrin level in erythropoietic protopor-phyria. Tohoku J Exp Med. 1980; 130: 97–100.
  • Scholwick P, Marver H, Schmid R. Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation. J Clin Invest 1971; 50: 203–7.
  • Piomelli 5, Lamola AA, Poh-Fitzptrick MF, Seaman C, Harber LC. Erythropoietic protopor-phyria and lead intoxication: the molecular basis for differences in cutaneous photosensitivity. I. Different rates of disappearance of protopor-phyrin from the erythrocytes, both in vivo and in vitro. J Clin Invest 1975; 56: 1519–27.
  • Lamon JM, Poh-Fitzpatrick MB, Lamola AA, Frykholm BC, Freeman ML, Doleiden FH. Hepatic protoporphyrin production in human protoporphyria. Gastroenterology 1980; 79: 115— 25.
  • Poh-Fitzpatrick MB. Protoporphyrin metabolic balance in human protoporphyria. Gastroenterol-ogy 1985; 88: 1239–43.
  • De Verneuil H, Ged C, Boulechfar S, Moreau-Gaundry F. Porphyrias: animal models and prospects for cellular and gene therapy. J Bioenerg Biomembr 1995; 27: 239–48.
  • Polson RJ, Lim CK, Rolles K, Calne RY, Williams R. The effect of liver transplantation in a 13-year-old boy with erythropoietic protopor-phyria. Transplantation 1988; 46: 386–9.
  • Samuel D, Boboc B, Bemau J, Bismuth H, Benhamou JP. Liver transplantation for proto-porphyria. Evidence for a predominant role of erythropoietic tissue in protoporphyrin overpro-duction. Gastroenterology 1988; 95: 816–9.
  • Bottomley S, Tanaka M, Everett M. Diminished erythroid ferrochelatase activity in protopor-phyria. J Lab Clin Med 1975; 86: 126–31.
  • Brun A, Western A, Malik Z, Sandberg S. Erythropoietic protoporphyria: photodynamic transfer of protoporphyrin from intact erythro-cytes to other cells. Photochem Photobiol 1990; 51: 573–7.
  • Brun A, Steen HB, Sandberg S. Erythropoietic protoporphyria: a quantitative determination of erythropoietic protoporphyrin in individual cells by flow cytometry. Scand J Clin Lab Invest 1988; 48: 261–7.
  • Clark KGA, Nicholson D. Erythropoietic proto-porphyrin and iron uptake in erythropoietic protoporphyria. Clin Sci 1971; 41: 363–70.
  • Sandberg S, Brun A. Light-induced protopor-phyrin release from erythrocytes in erythropoietic protoporphyria. J Clin Invest 1982; 70: 693–8.
  • Brun A, Sandberg S. Photodynamic release of protoporphyrin from intact erythrocytes in ery-thropoietic protoporphyria: the effect of small repetitive light doses. Photochem Photobiol 1985; 41: 535–41.
  • Lin Miao L, Mathews Roth MM, Poh-Fitzpatrick MB. Beta-carotene treatment and erythropoietic protoporphyrin levels. Arch Dermatol 1979: 115–8.
  • Hopsu-Havu VK, Terho PE, Hollmén S. Erythro-poietic protoporphyria. The first case in Finland. Ann Clin Res 1973; 5: 181–5.
  • Morgan WT, Smith A, Koskelo P. The interaction of human serum albumin and hemopexin with porphyrins. Biochim Biophys Acta 1980; 624: 271–85.
  • Lamola AA, Asher I, Milner-Eberhard U, Poh-Fitzpatrick MB. Fluorimetric study of the binding of protoprophyrin to haemopexin and albumin. Biochem J 1981; 196: 693–8.
  • Reyftmann JP, Morlier P, Goldstein S, Santus R, Dubertret L, Lagrange D. Interaction of human serum low density lipoproteins with porphyrins. A spectroscopic and photochemical study. Photo-chem Photobiol 1984; 40: 721–9.
  • Kongshaug M, Moan J, Brown SB. The distribu-tion of porphyrins with different tumor localizing ability among plasma plasma proteins. Br J Cancer 1989; 59: 184–8.
  • Candide C, Reyftmann JP, Santus R, Maziére JC, Morliére P, Goldstein S. Modification of e-amino group of lysines, cholesterol oxidation and oxi-dized lipoprotein cross-link formation by por-phyrin-photosensitized oxidation of human low density lipoproteins. Photochem Photobiol 1988; 48: 137–46.
  • Goldstein JL, Ho YK, Basu SK, Brown MS. Binding sites on macrophages that mediate uptake and degradation of acetylated low density lipo-protein, producing massive cholesterol deposition. Proc Natl Acad Sci U S A 1979; 76: 333–7.
  • Stein 0, Stein Y. Bovine aortic endothelial cells display macrophage-like properties towards acety-lated (125I)-labeled low density lipoprotein. Bio-chim Biophys Acta 1980; 620: 631–5.
  • Voyta JC, Via DP, Butterfield CE, Zetter BR. Identification and isolation of endothelial cells based on their increased uptake of acetylated-low density lipoproteins. J Cell Biol 1984; 99: 2034–40.
  • Gomer CJ, Razum NJ. Acute skin response in albino mice following porphyrin photosensitiza-tion under oxic and anoxic conditions. Photochem Photobiol 1984; 40: 43–9.
  • Lee See K, Forbes IJ, Betts WH. Oxygen dependency of phototoxicity with haematopor-phyrin derivatives. Photochem Photobiol 1984; 39: 631–4.
  • Spikes JD. Porphyrins and related compounds as photodynamic sensitizers. Ann NY Acad Sci 1975; 244: 496–508.
  • Whitten DG. Photochemistry of porphyrins and their metal complexes in solutions and organized media. Rev Chem Intermediates 1978; 2: 107–38.
  • Spikes JD, MacKnight ML. Dye-sensitized photo-oxidation of proteins. Ann NY Acad Sci 1970; 171: 149–62.
  • van Steveninck J, Dubbelman TM, de Goeij AF, Went LN. Binding of protoporphyrin to hemo-globin in red blood cells of patients with erythropoietic protoporphyria. Hemoglobin 1977; 1: 679–90.
  • Sandberg S. Porphyric red cells. In: Nagel RL, editor. Genetically abnormal red cells. Boca Raton: CRC Press; 1988. p. 1–31.
  • Mathews-Roth MM. Beta-carotene therapy for erythropoietic protoporphyria and other photo-sensitivity disorders. In: Regan JJ, Parish JA, editors. The science of photomedicine. New York: Plenum Press; 1982. p. 409–41.
  • Konrad K, H6ningsmann H, Gschnait GF, Wolff K. Mouse model for protoporphyria. II. Cellular and subcellular events in the photosensitivity flare of the skin. J Invest Dermatol 1975; 65: 300–10.
  • Lim HW, Gigli I. Wasserman SI. Differential effects of protoporphyrin and uroporphyrin on murine mast cells. J Invest Dermatol 1987; 88: 281–6.
  • Glover RA, Bailey CS, Barrett K, Wasserman SI, Gigli I. Histamine release from rodent and human mast cells induced by protoporphyrin and ultra-violet light: studies of the mechanism of mast-cell activation in erythropoietic protoporphyria. Br J Dermatol 1990; 122: 501–12.
  • Baart De La Faille H, Beerens EG, van Weelden H, Berrens L. Complement components in blood serum and suction blister fluid in erythropoietic protoporphyria. Br J Dermatol 1978; 99: 401–4.
  • Lim HW, Gigli I. Role of complement in porphyrin-induced photosensitivity. J Invest Der-matol 1981; 76: 4–9.
  • Gigli I, Schothorst AA, Soter NA, Pathak MA. Erythropoietic protoporphyria. Photodynamic activation of the complement system. J Clin Invest 1980; 66: 517–22.
  • 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: 1961–5-5.
  • Wolff K, H6ningsmann H, Rauschmeier W, Schuler G, Pechlaner R. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh) 1982; 100: 17–28.
  • Whitcombe DM, Albertson DDG, Smith SJ, Rhodes DA, Cox TM. Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Geno-mics 1991; 11: 1152–4.
  • Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA, Dailey HA. A molecular defect in human protoporphyria. Am J Hum Genet 1992; 50: 1203–10.
  • Whitcombe DM, Albertson DG, S Cox TM. Molecular analysis of functional and non-func-tional genes for human ferrochelatase. Isolation and characterisation of a FECH pseudogene and its sublocalisation on chromosome 3. Genomics 1994; 20: 482–6.
  • Tugores A, Magness ST, Brenner DA. A single promotor directs both housekeeping and erythroid preferential expression of the human ferrochela-tase gene. J Biol Chem 1994; 269: 30789–97.
  • Chan RYY, Schulman HM, Ponka P. The expression of ferrochelatase mRNA in erythroid and non-erythroid cells. Biochem J 1993; 292: 343–9.
  • Sellers VM, Dailey TA, Dailey HA. Examination of ferrochelatase mutations that cause erythro-poietic protoporphyria. Blood 1998; 91: 3980–5.
  • Dailey HA, Finnegan MG, Johnson MK. Human ferrochelatase is an iron-sulfur protein. Biochem-istry 1994; 33: 403–7.
  • Haeger-Aronsen B, Stathers G, Swahn G. Her-editary coproporphyria. Study of a Swedish family. Ann Int Med 1968; 69: 221–7.
  • Sarkany RP, Alexander GJ, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994; 344 (8927): 958–9.
  • Lamoril J, Boulechfar S, de Vemeuil H, Grandchamp B, Nordmann Y, Deybach JC. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Com 1991; 181: 594–9.
  • Norris PG, Nunn AV, Hawk JL, Cox TM. Genetic heterogeneity in erythropoietic protopor-phyria: a study of the enzymatic defect in nine affected families. J Invest Derm 1990; 95: 260–3.
  • Donaldson EM, Donaldson AD, Rimington C. Erythropoietic protoporphyria: a family study. Br Med J 1967; 1: 659–63.
  • Deybach JC, Da Silva V, Pasquier Y, Nordman Y. Ferrochelatase in human protoporphyria: the first case of a homozygous form of the enzyme deficiency. In: Nordmann Y, editor. Porphyrins and porphyrias. London: Libbey; 1986. p. 163–7.
  • Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ. Heme synthetase deficiency in human proto-porphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest 1975; 56: 1139–48.
  • Sassa S, Zalar GL, Poh-Fithpatrick MB, Anderson KE, Kappas A. Studies in porphyria. Functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lym-phocytes from patients with erythropoietic proto-porphyria. J Clin Invest 1982; 69: 809–15.
  • Nunn AV, Norris P, Hawk JL, Cox TM. Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria. Anal Biochem 1988; 174: 146–50.
  • Straka JG, Hill HD, Krikava JM, Kools AM, Bloomer JR. Immunochemical studies of ferroche-latase protein: characterization of the normal and mutant protein in bovine and human protopor-phyria. Am J Hum Genet 1991; 48: 72–8.
  • Norris PG, Nunn AV, Hawk JLM, Cox TM. Genetic heterogeniety in erythropoietic protopor-phyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol 1990; 95: 260–3.
  • Went LN, Klasen EC. Genetic aspects of ery-thropoietic protoporphyria. Ann Hum Genet 1984; 48: 105–17.
  • Gouya L, Deybach JC, Lamoril J, Da Silva V, Beaumont C, Grandchamp B, Nordmann Y. Modulation of the phenotype in dominant ery-thropoietic protoporphyria by a low level expres-sion of the normal ferrochelatase allele. Am J Hum Genet 1996; 58: 292–9.
  • Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20 year study. Clin Biochem 1989; 22: 223–9.
  • Cripps DJ, Peters HA. Fluorescing erythrocytes and porphyrin screening tests on urine, stool and blood. Arch Dermatol 1967; 96: 712–20.
  • Todd DJ, Nesbitt GS, Lavery TD, Trimble ER, Burrows D. Erythropoietic protoporphyria. The problem of a suitable screening test. Acta Derm Venereol (Stockh) 1990; 70: 347–50.
  • Garden JS, Mitchell, Jackson K, Aldous KM. Improved ethanol extraction procedure for deter-mining zinc protporphyrin in whole blood. Clin Chem 1977; 23: 1585–9.
  • Rossi E, Cumow DH. Porphyrins. In: Lim CK, editor. HPLC of small molecules: a practical approach. Oxford: IRL Press; 1986. p. 1585–9.
  • Sandberg S, Talstad I, Hovding G, Bjelland N. Light-induced release of protoporphyrin, but not of zinc protoporphyrin, from erythrocytes in a patient with greatly elevated erythrocyte proto-porphyrin. Blood 1983; 62: 846–51.
  • Deacon AC. Fecal prophyrin screening. Clin Chem 1990; 37: 1383.
  • Beukeweld GJJ Wolters BG, van Saene JJM, de Haan THIJ, de Ruyter-Buitenhuis LS, van Saene RHF. Patterns of porphyrin excretion in faeces as determinined by liquid chromatography: reference values and the effect of flora suppression. Clin Chem 1983; 29: 2061–7.
  • DeLeo VA, Poh-Fitzpatrick MB, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med 1976; 60: 8–22.
  • Bloomer JR, Hill HD, Kools AM, Straka JG. Heme synthesis in protoporphyria. In: Vermeer BJ, Wuepper KD, van Vloten WA, Baart de la Faille H, van der Schroeff JG, editors. Metabolic disorders and nutrition correlated with skin. CUff Probl Dermatol 1991; 20: 135–47.
  • Mathews-Roth MM. Anemia in erythropoietic protoporphyria. JAMA 1974; 230: 824–31.
  • Brun A, Steen H, Sandberg S. Erythropoietic protoporphyria: two populations of reticulocytes with and without protoporphyrin. Eur J Clin Invest 1996; 26: 270–8.
  • Rademakers LH, Koningsberger JC, Sorber CW, Baart de la Faille H, van Hattum J, Marx JJ. Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest 1993; 23: 130–8.
  • Milligan A, Graham-Brown RA, Sarkany I, Baker H. Erythropoietic protoporphyria exacer-bated by oral iron therapy. Br J Dermatol 1988; 119: 63–6.
  • Poh-Fitzpatrik MB. Erythropoietic protopor-phyria. Semin Dermatol 1986; 5: 99–105.
  • Krook G, Haeger-Aronsen B. I3-carotene in the treatment of erythropoietic protoporphyria. Acta Derm Venereol (Stockh) 1982; 100: 125–9.
  • Mathews-Roth MM. Beta-carotene therapy for erythropoietic protoporphyria and other photo-sensitivity diseases. Biochimie 1986; 68: 875–84.
  • Corbett MF, Herxheimer A, Magnus IA. The long term treatment with beta-carotene in erythropoietic protoporphyria. A controlled trial. Br J Dermatol 1977; 46: 1890–3.
  • Mathews-Roth MM. Photoprotection by carote-noides. Fed Proc 1987; 46: 1890–3.
  • Mathews-Roth MM. Treatment of erythropoietic protoporphyria with beta-carotene. Photoderma-tology 1984; 1: 318–21.
  • Krinsky NI. Antioxidant function of carotenoids. Free Rad Biol Med 1989; 7: 617–35.
  • Mathews-Roth MM, Rosner B, Benfell K, Roberts JE. A double blind study of cysteine photoprotection in erythropoietic protopor-phyria. Photodermatol Photoimmunol Photomed 1994; 10: 244–8.
  • Marcus DL, Halbrecht JL, Bourque AL, Lew G, Nadel H, Freedman ML. Effect of cimetidine on delta-aminolevulinic acid synthetase and micro-somal haem oxygenase in the liver. Biochem Pharmacol 1984; 33: 2005–8.
  • Yamamoto S, Hirano Y, Hone Y. Cimetidine reduces erythrocyte protoporphyrin in erythro-poietic protoprophyria. Am J Gastroenterol 1993; 88: 1456–6.
  • Farr PM, Diffey BL, Matthews JN. Inhibition of photosensitivity in erythropoietic protoporphyria with terfenadine. Br J Dermatol 1990; 122: 809–15.
  • Meerman L, Verwer R, Sloof MJ, van Hattum J, Beukeveld GJ, Kleibeuker GJ, Haagsma EB. Perioperative measures during liver transplanta-tion for erythropoietic protoporphyria. Trans-plantation 1994; 57: 155–8.
  • Herbert A, Corbin D, Williams A, Thompson D, Buckels, Elias E. Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. Gastroenterology 1991; 100: 1753–7.
  • MacDonald DM, Germain D, Perrot H. The histopathology and ultrastructure of liver disease in erythropoietic protoporphyria. Br J Dermatol 1981; 104: 7–17.
  • Mooyaart BR, de Jong GMT, van der Veen S, Driessen LH, Beukeveld GJ, Grond J, Gips CH. Hepatic disease in erythropoietic protoporphyria. Dematologica 1986; 173: 120–30.
  • van Hattum J, Baart de la Faille H, van den Berg WO, Edixhoven-Bosdijk A, Wilson JH. Cheno-deoxycholic acid therapy in erythropoietic pro-toporphyria. J Hepatol 1986; 3: 407–12.
  • Cripps DK, Goldfarb SS. Erythropoietic proto-porphyria: hepatic cirrhosis. Br J Dermatol 1978; 98: 349–54.
  • Rademakers LHPM, Cleton MI, Kooijman C, Baart de la Faille H, van Hattum J. Early involvement of hepatic parenchymal cells in erythropoietic protoporphyria? An ultrastruc-tural study of patients with and without overt liver disease and the effect of chenodeoxycholic acid treatment. Hepatology 1990; 11: 449–57.
  • Thompson RPH, Molland EA, Nicholson DC, Gray CH. Erythropoietic protoporphyria and cirrhosis in sisters. Gut 1973; 14: 934–8.
  • Klatskin G, Bloomer JR. Birefringence of hepatic pigment deposits in erythropoietic protopor-phyria. Specificity and sensitivity of polarization microscopy in the identification of hepatic porphyrin deposits. Gastroenterology 1974; 67: 294–302.
  • Matilla A, Molland EA. A light and electron microscopic study of the liver in a case of erythropoietic protoporphyria and in griseoful-yin-induced protoporphyria in mice. J Clin Pathol 1974; 27: 698–709.
  • Bloomer JR, Hill HD, Kools AM, Straka J. Heme synthesis in protoporphyria. Curr Probl Dermatol 1991; 20: 135–47.
  • Frank, M, Doss MO. Severe liver disease in protoporphyria. In: Vermeer, BJ, Wuepper KD, van Vloten WA, Baart de la Faille H, vander Schroeff JG, editors. Metabolic disorders and nutrition correlated with skin. Curr Probl Dermatol 1991; 20: 160–7.
  • Nordmann Y. Erythropoietic protoporphyria and hepatic complications. J Hepatol 1992; 16: 4–6.
  • Mercurio MG, Prince G, Weber FL Jr, Jacobs G, Zaim MT, Bickers DR. Terminal hepatic failure in erythropoietic protoporphyria. J Am Acad Dermatol 1993; 29: 829–33.
  • Sarkany RPE. The molecular genetics of ery-thropoietic protoporphyria. In: Dahl MV, Lynch PS, editors. Current opinion in dermatology. Philadelphia: Curr Sci 1995. p. 219–24.
  • Redeker AG, Sterling RE. The "glucose effect" in erythropoietic protoporphyria. Arch Intern Med 1968; 121: 446–8.
  • Avner DL, Berenson MM. Effect of choleretics on canalicular transport of protoporphyrin in the rat liver. Am J Physiol 1982; 242: G347–53.
  • Torres I de, Demetris AJ, Randhawa PS. Recurrent hepatic allograft injury in erythropoie-tic protoporphyria. Transplantation 1996; 61: 1412–3.
  • Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L, et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993; 75: 451–62.
  • Beukeveld GJ, I'nt Veld G, Havinga R, Groen AK, Wolthers BG, Kuipers F. Relation between biliary lipid and protoporphyrin secretion; poten-tial role of mdr2 P-glycoporotein in hepatobiliary organic anion transport. J Hepatol 1996; 24: 343–5.
  • Berenson MM, el-Mir MY, Zhang LK. Mechan-ism of bile acid facilitation of biliary protopor-phyrin excretion in rat liver. Am J Physiol 1995; 268: G754–63.
  • Avner DL, Larsen R, Berenson MM. Inhibition of liver surface membrane Na +, K+ adenosine triphosphatase, Mg2+ -adenosine triphosphatase and 5' -nucleotidase activities by protoporphyrin: observations in vitro and in perfused rat liver. Gastroenterology 1983; 85: 700–6.
  • Berenson MM, Zhang L-K, Straight RC, Terreros DA. Calcium and bile acid (BA) structure are the principal determinants of protoporphyrin (PP) crystallization in bile salt solutions from perfused rat livers. Hepatology 1996; 24 (4) 295-Part 2 Suppl S.
  • Bruch-Gerhartz, Bolsen K, Gerharz CD, Goerz G. Erythropoietic protoporphyria and terminal hepatic failure. Acta Derm Venereol (Stockh) 1996; 76: 453–6.
  • Potter C, Tolaymat N, Bobo R, Sharp H, Rank J, Bloomer J. Hematin therapy in children with protoporphyric liver disease. J Pediatr Gastro-enterol Nutr 1996; 23: 402–7.
  • Bechtel MA, Bertolone SJ, Hodge SJ. Transfu-sion therapy in a patient with erythropoietic protoporphyria. Arch Dermatol 1981; 117: 99–101.
  • Bonkowsky HL, Schned AR. Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. Gastroenterology 1986; 90: 191–201.
  • Bloomer JR, Weimer MK, Bossenmaier IC, Snover DC, Payne WD, Ascher N. Liver transplantation in a patient with protoporphyria. Gastroenterology 1989; 97: 188–94.
  • Key NS, Rank JM, Freese D, Bloomer JR, Hammerschmidt DE. Hemolytic anemia in pro-toporphyria: possible precipitating role of liver failure and photic stress. Am J Hematol 1992; 39: 202 — 7.
  • Romslo I, Gadeholt HG, Hoevding G. Erythro-poietic protoporphyria terminating in liver fail-ure. Arch Dermatol 1982; 118: 668–71.
  • Muley SA, Midani HA, Rank JM, Carithers R, Parry GJ. Neuropathy in erythropoietic por-phyria. Neurology 1998; 51: 262–5.
  • Bechtel MA, Bertolone SJ, Hodge SJ. Transfusion therapy in a patient with erythropoietic proto-porphyria. Arch Dermatol 1981; 117: 99–101.
  • Spiva DA, Lewis CW. Erythropoietic proto-porphyria. Therapeutic response to combined erythrocyte exchange and plasmapheresis. Photo-dermatol 1984; 1: 211–6.
  • van Wijk HJ, Hattum J, Baart de la Faille H, van den Berg, Edixhoven-Bosdijk A, Wilson JH. Blood exchange and transfusion therapy for acute cholestasis in protoporphyria. Dig Dis Sci 1988; 33: 1621–5.
  • McClements BM, Bingham A, Callender ME, Trimble ER. Erythropoietic protoporphyria and iron therapy. Br J Dermatol 1990; 122: 423–4.
  • Piomelli S, Poh-Fitzpatrik MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long term treatment with high-level transfusions. N Engl J Med 1986; 314: 1029–31.
  • Bloomer JR. Protoporphyria. Semin Liver Dis 1982; 2: 143–53.
  • McCullough AJ, Barron D, Mullen KD, Petrelli M, Chung Park M, Mukhtar H, et al. Fecal protophorphyrin excretion in erythropoietic pro-toporphyria: effect of cholestyramine and bile acid feeding. Gastroenterology 1988; 94: 177–81.
  • Meerman L, Verwer R, Slooff MJ, van Hattum J, Beukeveld GJ, Kleibeuker GJ, Haagsma EB. Perioperative measures during liver transplanta-tion for erythropoietic protoporphyria. Trans-plantation 1994; 57: 155–8.
  • Bloomer JR. Liver metabolism of porphyrins and haem. J Gastroenterol Hepatol 1998; 13: 324–9.
  • Bloomer JR, Rank JM, Paynes WD. Follow up after liver transplantation for protoporphyric liver disease. Liver Transpl Surg 1996; 2: 269–75.
  • Steinmiiller T, Doss MO, Steffen R, Blumhardt G, Bechstein WO, Frank M. Lebertransplanta-tion bei erythrohepatischer Protoporphyria. Dtsch Med Wochenschr 1992; 117: 1097–1102.
  • Meerman L, Haagsma EB, Gouw AS, Slooff JH, Jansen PL. Long term follow-up after liver trans-plantation for erythropoietic protoporphyria. Eur J Gastroenterol Hepatol 1999; 11: 431–8.
  • Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone-marrow transplantation for congenital erythropoietic protoporphyria. Lancet 1991; 337: 1510–8.
  • Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Ytegin S, Ersoy F, Aizencang G, Astrin KH, Desnick RJ. Congenital erythropoietic por-phyria successfully treated by allogenic bone marrow transplantation. Blood 1998; 92: 4053–8.
  • Mathews Roth MM, Wise RJ, Miller BA. Burst-forming erythroid units from erythropoietic protoporphyria patients fluoresce under 450 rim light. Blood 1996; 87: 4480–1.
  • Moreau-Gaudry F, Ged C, de Vernwuil H. Gene therapy for erythropoietic porphyrias. Gene Ther 1996; 3: 843–4.
  • Pawliuk R, Bachelot T, Wise RY, Mathews-Roth MM, Leboulch P. Long term cure of the photosensitivity murine erythropoietic protopor-phyria by preselective gene therapy. Nature Med 1999; 5: 768–73.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.