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Porphyrien

  • S. W. Sahm
  • W. F. Caspary
Chapter

Zusammenfassung

Unter Porphyrien versteht man Stoffwechselkrankheiten, die durch eine Störung der Hämbiosynthese gekennzeichnet sind. Die traditionelle Einteilung dieser Erkrankungen in hepatisehe und erythropoetische Formen ist unscharf, da es Überschneidungen gibt. Auch bei den erythropoetischen Porphyrien kann die Leber mehr oder weniger betroffen sein.

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Literatur

  1. Akagi R, Shimizu R, Furuyama K, et al., (2000) Novel molecular defects of the delta-aminolevunilate dehydrogenase in a patient with inherited acute hepatic porhyria. Hepatology 31:704–708PubMedCrossRefGoogle Scholar
  2. Bloomer JR, Straka JG, Rank J M (1993) The porphyrias. In: Schiff L, Schiff ER (eds) Diseases of the liver, PhiladelphiaGoogle Scholar
  3. Bonkowsky HL, Poh-Fitzpatrick M, Pimstone N, et al., (1998) Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 27:1661–1666CrossRefGoogle Scholar
  4. Bulaj ZJ, Philipps JD, Ajioka RS, et al., (2000) Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 95:1565–1571PubMedGoogle Scholar
  5. Doss MO (1995) Porphyrie. In: Thomas L (Hrsg) Labor und Diagnose, Medizinische Verlagsgesellschaft, Marburg, S 549 ffGoogle Scholar
  6. Doss MO (1997) Hepatische Porphyrien. Med Klin 92:745–746CrossRefGoogle Scholar
  7. Fargion S, Piperno A, Cappellini M, et al., (1992) Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 16:1322–27PubMedCrossRefGoogle Scholar
  8. Kappas A, Sassa S, Galbraith RA, et al., (1995) The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, et al., (Hrsg) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, S 2103–2115Google Scholar
  9. Köstler E, Doss MO (1995) Porphyria cutanea tarda (chronische hepatische Porphyrie). Dtsch Med Wochenschr 120:1405–1410PubMedCrossRefGoogle Scholar
  10. Medenica R, Lazoviv G, Long P, et al., (1997) Plasmapheresis combined with somatostatin is a successful treatment of porhyrias. Ther Apher 1:159–164PubMedCrossRefGoogle Scholar
  11. Mustajoki P, Nordmann Y (1993) Early administration of hemearginate for acute porphyric attacks. Arch Intern Med 153:2004–2007PubMedCrossRefGoogle Scholar
  12. Petrides PE (1998) Acute intermittent porphyria: mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis. Skin Pharmacol Appl Skin Physiol 11:374–380PubMedCrossRefGoogle Scholar
  13. Roberts AG, Whatley SD, Morgan RR, et al., (1997) Increased frequency of the hemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349:321–323PubMedCrossRefGoogle Scholar
  14. Sassa S, Kappas A (2000) Molecular aspects of inherited porphyrias. J Intern Med 247:169–178PubMedCrossRefGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • S. W. Sahm
  • W. F. Caspary

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