메뉴 건너뛰기




Volumn 24, Issue 5, 2010, Pages 593-605

The acute hepatic porphyrias: Current status and future challenges

Author keywords

Acute hepatic porphyria; Acute intermittent porphyria; Haem biosynthesis; Hereditary coproporphyria; Porphyria; Variegate porphyria; Aminolevulinic acid dehydratase deficiency porphyria

Indexed keywords

AMINOLEVULINIC ACID; HEMATIN; HEME; HEME ARGINATE; PORPHOBILINOGEN SYNTHASE;

EID: 77958087402     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.08.010     Document Type: Article
Times cited : (49)

References (51)
  • 5
    • 0025331729 scopus 로고
    • The cutaneous porphyrias
    • G.H. Elder The cutaneous porphyrias Semin Dermatol 9 1990 63 69
    • (1990) Semin Dermatol , vol.9 , pp. 63-69
    • Elder, G.H.1
  • 7
    • 4344615560 scopus 로고    scopus 로고
    • The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany
    • M.O. Doss, T. Stauch, U. Gross, M. Renz, R. Akagi, and M. Doss-Frank The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany J Inherit Metab Dis 27 2004 529 536
    • (2004) J Inherit Metab Dis , vol.27 , pp. 529-536
    • Doss, M.O.1    Stauch, T.2    Gross, U.3    Renz, M.4    Akagi, R.5    Doss-Frank, M.6
  • 8
    • 0030987819 scopus 로고    scopus 로고
    • The little imitator-porphyria: A neuropsychiatric disorder
    • H.L. Crimlisk The little imitator-porphyria: a neuropsychiatric disorder J Neurol Neurosurg Psychiatry 62 1997 319 328
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 319-328
    • Crimlisk, H.L.1
  • 9
    • 0030140415 scopus 로고    scopus 로고
    • A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
    • P.N. Meissner, T.A. Dailey, R.J. Hift, M. Ziman, A.V. Corrigall, and A.G. Roberts A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria Nat Genet 13 1996 95 97
    • (1996) Nat Genet , vol.13 , pp. 95-97
    • Meissner, P.N.1    Dailey, T.A.2    Hift, R.J.3    Ziman, M.4    Corrigall, A.V.5    Roberts, A.G.6
  • 12
    • 70249137583 scopus 로고    scopus 로고
    • Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study
    • I. Bylesjo, A. Wikberg, and C. Andersson Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study Scand J Clin Lab Invest 69 2009 612 618
    • (2009) Scand J Clin Lab Invest , vol.69 , pp. 612-618
    • Bylesjo, I.1    Wikberg, A.2    Andersson, C.3
  • 13
    • 0042343896 scopus 로고    scopus 로고
    • Acute intermittent porphyria in women: Clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
    • C. Andersson, E. Innala, and T. Backstrom Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden J Intern Med 254 2003 176 183
    • (2003) J Intern Med , vol.254 , pp. 176-183
    • Andersson, C.1    Innala, E.2    Backstrom, T.3
  • 14
    • 0031971162 scopus 로고    scopus 로고
    • Linkage disequilibrium analysis in a recently founded population: Evaluation of the variegate porphyria founder in South African Afrikaners
    • J.Z. Groenewald, J. Liebenberg, I.M. Groenewald, and L. Warnich Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners Am J Hum Genet 62 1998 1254 1258
    • (1998) Am J Hum Genet , vol.62 , pp. 1254-1258
    • Groenewald, J.Z.1    Liebenberg, J.2    Groenewald, I.M.3    Warnich, L.4
  • 15
    • 0035101824 scopus 로고    scopus 로고
    • Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile
    • J. Frank, V.M. Aita, W. Ahmad, H. Lam, C. Wolff, and A.M. Christiano Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile Hum Hered 51 2001 160 168
    • (2001) Hum Hered , vol.51 , pp. 160-168
    • Frank, J.1    Aita, V.M.2    Ahmad, W.3    Lam, H.4    Wolff, C.5    Christiano, A.M.6
  • 17
    • 0018855883 scopus 로고
    • A plasma porphyrin fluorescence marker for variegate porphyria
    • M.B. Poh-Fitzpatrick A plasma porphyrin fluorescence marker for variegate porphyria Arch Dermatol 116 1980 543 547
    • (1980) Arch Dermatol , vol.116 , pp. 543-547
    • Poh-Fitzpatrick, M.B.1
  • 18
    • 0035016319 scopus 로고    scopus 로고
    • Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
    • J. Lamoril, H. Puy, S.D. Whatley, C. Martin, J.R. Woolf, and V. Da Silva Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria Am J Hum Genet 68 2001 1130 1138
    • (2001) Am J Hum Genet , vol.68 , pp. 1130-1138
    • Lamoril, J.1    Puy, H.2    Whatley, S.D.3    Martin, C.4    Woolf, J.R.5    Da Silva, V.6
  • 20
    • 0022641654 scopus 로고
    • Instability of hematin used in the treatment of acute hepatic porphyria
    • C.A. Goetsch, and D.M. Bissell Instability of hematin used in the treatment of acute hepatic porphyria N Engl J Med 315 1986 235 238
    • (1986) N Engl J Med , vol.315 , pp. 235-238
    • Goetsch, C.A.1    Bissell, D.M.2
  • 21
    • 0031940457 scopus 로고    scopus 로고
    • Acute porphyria: Treatment with heme
    • R. Tenhunen, and P. Mustajoki Acute porphyria: treatment with heme Semin Liver Dis 18 1998 53 55
    • (1998) Semin Liver Dis , vol.18 , pp. 53-55
    • Tenhunen, R.1    Mustajoki, P.2
  • 22
    • 0027235754 scopus 로고
    • Early administration of heme arginate for acute porphyric attacks
    • P. Mustajoki, and Y. Nordmann Early administration of heme arginate for acute porphyric attacks Arch Intern Med 153 1993 2004 2008
    • (1993) Arch Intern Med , vol.153 , pp. 2004-2008
    • Mustajoki, P.1    Nordmann, Y.2
  • 23
    • 33847138626 scopus 로고    scopus 로고
    • European porphyria initiative (EPI): A platform to develop a common approach to the management of porphyrias and to promote research in the field
    • J.C. Deybach, M. Badminton, H. Puy, S. Sandberg, J. Frank, and P. Harper European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field Physiol Res 55 Suppl. 2 2006 S67 S73
    • (2006) Physiol Res , vol.55 , Issue.SUPPL. 2
    • Deybach, J.C.1    Badminton, M.2    Puy, H.3    Sandberg, S.4    Frank, J.5    Harper, P.6
  • 24
    • 77958098308 scopus 로고    scopus 로고
    • Hydroxymethylbilane synthase (HMBS) deficiency
    • S. Thunell Hydroxymethylbilane synthase (HMBS) deficiency R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens, GeneReviews [Internet] 2010 University of Washington Seattle (WA) 1993 2005
    • (2010) GeneReviews [Internet] , pp. 1993-2005
    • Thunell, S.1
  • 25
    • 67449119677 scopus 로고    scopus 로고
    • Neurological manifestations of acute intermittent porphyria
    • E. Pischik, and R. Kauppinen Neurological manifestations of acute intermittent porphyria Cell Mol Biol (Noisy-le-grand) 55 2009 72 83
    • (2009) Cell Mol Biol (Noisy-le-grand) , vol.55 , pp. 72-83
    • Pischik, E.1    Kauppinen, R.2
  • 26
    • 0033776409 scopus 로고    scopus 로고
    • Renal symptomatology in patients with acute intermittent porphyria. A population-based study
    • C. Andersson, A. Wikberg, B. Stegmayr, and F. Lithner Renal symptomatology in patients with acute intermittent porphyria. A population-based study J Intern Med 248 2000 319 325
    • (2000) J Intern Med , vol.248 , pp. 319-325
    • Andersson, C.1    Wikberg, A.2    Stegmayr, B.3    Lithner, F.4
  • 27
    • 67449147378 scopus 로고    scopus 로고
    • Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes
    • E. Sardh, D.E. Andersson, A. Henrichson, and P. Harper Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes Cell Mol Biol (Noisy-le-grand) 55 2009 66 71
    • (2009) Cell Mol Biol (Noisy-le-grand) , vol.55 , pp. 66-71
    • Sardh, E.1    Andersson, D.E.2    Henrichson, A.3    Harper, P.4
  • 28
    • 47249128185 scopus 로고    scopus 로고
    • Trends in mortality from hepatocellular carcinoma in Europe, 1980-2004
    • DOI 10.1002/hep.22312
    • C. Bosetti, F. Levi, P. Boffetta, F. Lucchini, E. Negri, and C. La Vecchia Trends in mortality from hepatocellular carcinoma in Europe, 1980-2004 Hepatol 48 2008 137 145 (Pubitemid 351980469)
    • (2008) Hepatology , vol.48 , Issue.1 , pp. 137-145
    • Bosetti, C.1    Levi, F.2    Boffetta, P.3    Lucchini, F.4    Negri, E.5    La Vecchia, C.6
  • 29
    • 0021251029 scopus 로고
    • Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria, an epidemiological investigation
    • L. Hardell, N.O. Bengtsson, U. Jonsson, S. Eriksson, and L.G. Larsson Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria, an epidemiological investigation Br J Cancer 50 1984 389 397
    • (1984) Br J Cancer , vol.50 , pp. 389-397
    • Hardell, L.1    Bengtsson, N.O.2    Jonsson, U.3    Eriksson, S.4    Larsson, L.G.5
  • 30
    • 0021223597 scopus 로고
    • Hepatocellular carcinoma in patients with acute intermittent porphyria
    • F. Lithner, and L. Wetterberg Hepatocellular carcinoma in patients with acute intermittent porphyria Acta Med Scand 215 1984 271 274
    • (1984) Acta Med Scand , vol.215 , pp. 271-274
    • Lithner, F.1    Wetterberg, L.2
  • 31
    • 0023853558 scopus 로고
    • Acute hepatic porphyria and hepatocellular carcinoma
    • R. Kauppinen, and P. Mustajoki Acute hepatic porphyria and hepatocellular carcinoma Br J Cancer 57 1988 117 120
    • (1988) Br J Cancer , vol.57 , pp. 117-120
    • Kauppinen, R.1    Mustajoki, P.2
  • 32
    • 0034098286 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in patients with acute hepatic porphyria: Frequency of occurrence and related factors
    • C. Andant, H. Puy, C. Bogard, J. Faivre, J.C. Soulé, and Y. Nordmann Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors J Hepatol 32 2000 933 939
    • (2000) J Hepatol , vol.32 , pp. 933-939
    • Andant, C.1    Puy, H.2    Bogard, C.3    Faivre, J.4    Soulé, J.C.5    Nordmann, Y.6
  • 33
    • 6344229336 scopus 로고    scopus 로고
    • Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: Induced abortion as the sole therapeutic option?
    • K. Engelhardt, E. Trinka, G. Franz, I. Unterberger, M. Spiegel, and R. Beer Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? Eur J Neurol 11 2004 693 697
    • (2004) Eur J Neurol , vol.11 , pp. 693-697
    • Engelhardt, K.1    Trinka, E.2    Franz, G.3    Unterberger, I.4    Spiegel, M.5    Beer, R.6
  • 34
    • 33847010533 scopus 로고    scopus 로고
    • Unusual manifestation of acute hepatic porphyria in pregnancy
    • A. Weinzierl, C. Brezinka, and K. Engelhardt Unusual manifestation of acute hepatic porphyria in pregnancy Fetal Diagn Ther 22 2007 136 138
    • (2007) Fetal Diagn Ther , vol.22 , pp. 136-138
    • Weinzierl, A.1    Brezinka, C.2    Engelhardt, K.3
  • 36
    • 33745020102 scopus 로고    scopus 로고
    • Treatment of an acute attack of porphyria during pregnancy
    • M.N. Badminton, and J.C. Deybach Treatment of an acute attack of porphyria during pregnancy Eur J Neurol 13 2006 668 669
    • (2006) Eur J Neurol , vol.13 , pp. 668-669
    • Badminton, M.N.1    Deybach, J.C.2
  • 37
    • 77957560916 scopus 로고    scopus 로고
    • A retrospective analysis of outcome of pregnancy in patients with acute porphyria
    • J.T. Marsden, and D.C. Rees A retrospective analysis of outcome of pregnancy in patients with acute porphyria J Inherit Metab Dis 2010 published electronically on June 22
    • (2010) J Inherit Metab Dis
    • Marsden, J.T.1    Rees, D.C.2
  • 41
    • 33645788065 scopus 로고    scopus 로고
    • Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis
    • R. Hanaoka, S. Katayama, I.B. Dawid, and A. Kawahara Characterization of the heme synthesis enzyme coproporphyrinogen oxidase (CPO) in zebrafish erythrogenesis Genes Cells 11 2006 293 303
    • (2006) Genes Cells , vol.11 , pp. 293-303
    • Hanaoka, R.1    Katayama, S.2    Dawid, I.B.3    Kawahara, A.4
  • 42
    • 0035038749 scopus 로고    scopus 로고
    • Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria
    • M.M. Schuurmans, F. Hoffmann, R.L. Lindberg, and U.A. Meyer Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria Hepatology 33 2001 1217 1222
    • (2001) Hepatology , vol.33 , pp. 1217-1222
    • Schuurmans, M.M.1    Hoffmann, F.2    Lindberg, R.L.3    Meyer, U.A.4
  • 43
    • 3042698908 scopus 로고    scopus 로고
    • Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement
    • A. Johansson, C. Moller, J. Fogh, and P. Harper Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement Mol Med 9 2003 193 199
    • (2003) Mol Med , vol.9 , pp. 193-199
    • Johansson, A.1    Moller, C.2    Fogh, J.3    Harper, P.4
  • 45
    • 77249122441 scopus 로고    scopus 로고
    • Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
    • C. Unzu, A. Sampedro, I. Mauleón, L. Vanrell, J. Dubrot, and R.E. de Salamanca Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria J Hepatol 52 2010 417 424
    • (2010) J Hepatol , vol.52 , pp. 417-424
    • Unzu, C.1    Sampedro, A.2    Mauleón, I.3    Vanrell, L.4    Dubrot, J.5    De Salamanca, R.E.6
  • 46
    • 33947716314 scopus 로고    scopus 로고
    • Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
    • E. Sardh, L. Rejkjaer, D.E. Andersson, and P. Harper Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion Clin Pharmacokinet 46 2007 335 349
    • (2007) Clin Pharmacokinet , vol.46 , pp. 335-349
    • Sardh, E.1    Rejkjaer, L.2    Andersson, D.E.3    Harper, P.4
  • 47
    • 0042386222 scopus 로고    scopus 로고
    • Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery
    • A. Johansson, C. Möller, and P. Harper Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery Mol Cell Biochem 250 2003 65 71
    • (2003) Mol Cell Biochem , vol.250 , pp. 65-71
    • Johansson, A.1    Möller, C.2    Harper, P.3
  • 48
    • 68949212940 scopus 로고    scopus 로고
    • Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders Hum
    • A. Pañeda, L. Vanrell, I. Mauleon, J.S. Crettaz, P. Berraondo, and E.J. Timmermans Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders Hum Gene Ther 20 2009 908 917
    • (2009) Gene Ther , vol.20 , pp. 908-917
    • Pañeda, A.1    Vanrell, L.2    Mauleon, I.3    Crettaz, J.S.4    Berraondo, P.5    Timmermans, E.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.