Avertissement : les informations suivantes sont destinées aux professionnels de la santé. Elles contiennent des termes techniques et médicaux spécifiques.

Les articles, en anglais, sont disponibles dans le MEDLINE, base de données bibliographiques sur les sciences biologiques et biomédicales. Cette base est gérée par la bibliothèque nationale des Etats Unis d’Amérique (NLM). Le moteur de recherche dédié à cette base est principalement PubMed (www.ncbi.nlm.nih.gov/pubmed/). Son utilisation est gratuite.

Les porphyries

Revue sur les porphyries :

  • Whatley D.S. et al
    C-Terminal deletion in the ALAS2 gene lead to gain function and cause X-linked Dominant Protoporphyria wwithout anemia or iron overload. The American Journal of Human Genetics 83, p408-414.
  • Gouya L. et al
    The penetrance of dominant erythropietic protoporphyria is modulated by expression of wildtype FECH. Nature genetics 30 p27-28
  • Bickers DR, Pathak MA, Lim HW
    The Porphyrias.
    In : Fitzpatrick’s Dermatology in General Medicine, 5th edn., Freedberg IM et al, ed. New York: McGraw-Hill, 1999: 1766-1803.
  • Seminars in Liver Disease 1998
    18, Number 1 (whole issue).
  • Elder GH.
    Porphyria cutanea tarda.
    Seminars in Liver Disease 1998; 18:67-76.
  • Todd DJ.
    Erythropoietic protoporphyria.
    Brit J Dermatol 1994; 131:751-66.

  • Fritsch C, et al.
    Congenital erythropoietic porphyria.
    J Am Acad Dermatol 1997; 36:594-610.

Diagnostics

Référence pour les diagnostics :

  • Deacon AC, Peters TJ.
    Identification of acute porphyria:evaluation of a commercial screening test for urinary porphobilinogen.
    Ann Clin Biochem 1998;35:726-32.
  • Deacon AC, Elder GH.
    Front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500-507.
  • Buttery JE, Carrera AM, Panall PR.
    Reliability of the porphobilinogen screening assay. Pathology 1990; 22:197-8.
  • Buttery JE, Carrera AM, Panall PR.
    Analytical sensitivity and specificity of two screening methods for urinary porphobilinogen.
    Ann Clin Biochem 1990;27:165-6.
  • Kauppinen R, Fraunberg M.
    Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
    Clin Chem 2002; 48: 1891-1900.
  • Rossi E.
    Increased faecal porphyrins in acute intermittent porphyria. Clin Chem 1999;45:281-3.
  • Mustajoki P, Kauppinen R, Lannfelt L et al.
    Frequency of low erythrocyte porphobilinogen deaminase activity in Finland.
    J Int Med 1992; 231: 389-95.
  • Nordmann Y, Puy H, Da Silva V et al.
    Acute intermittent porphyria:prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Int Med 1997; 242: 213-217.
  • Jacob K, Doss M.
    Excretion pattern of faecal coproporphyrin isomers I-IV in human porphyrias.
    Eur J Clin Chem Clin Biochem 1995; 33: 893-901.

  • Sassa S.
    ALAD porphyria. Seminars in Liver Disease 1998; 18: 95-101.
  • Long C, Smyth SJ, Woolf J et al.
    The detection of latent porphyria by fluorescence emission spectroscopy of plasma.
    Br J Dermatol 1993; 129: 9-13.

Traitements

Informations supplémentaires :

  • Anderson KE, Spitz IM, Bardin CW, Kappas A.
    A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria.
    Arch Intern Med 1990; 150: 1469-74.
  • Bonkovsky HL.
    Advances in understanding and treating ‘The little imitator’, acute porphyria.
    Gastroenterology 1993; 105: 590-94.
  • Brodie MJ, Moore MR, Thompson GG, Goldberg A.
    The treatment of acute intermittent porphyria with laevulose.
    Clin Sci Mol Med 1977; 53: 365-71.
  • Dover SB, Moore MR, Fitzsimmons EJ, Graham A, McColl KEL.
    Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria.
    Gastroenterology 1993; 105: 500-506.
  • Elder GH, Hift RJ.
    Treatment of acute porphyria.
    Hospital Medicine 2001; 62: 422-25.
  • Gorchein A.
    Drug treatment in acute porphyria.
    Br J Clin Pharmacol 1997; 44: 427-34.
  • Herrick AL, McColl KEL, Moore MR, Cook A, Goldberg A.
    Controlled trial of heme arginate in acute hepatic porphyria.
    Lancet 1989; i: 1295-97.
  • Kalman DR, Bonkovsky HL.
    Management of acute attacks in the porphyrias.
    Clin Dermatol 1998; 16: 299-306.
  • Mustajoki P, Nordmann Y.
    Early administration of heme arginate for acute porphyric attacks.
    Arch Intern Med 1993; 153: 2004-08.

  • Robert TL, Varella L, Meguid MM.
    Nutrition management of acute intermittent porphyria.
    Nutrition 1994; 10: 551-55.
  • Tenhunen R, Mustajoki P.
    Acute porphyria: treatment with heme.
    Seminars in Liver Disease 1998; 18: 53-56.

Enquête familiale

Quelques références :

  • Puy H. Deybach J-C, Lamoril J et al.
    Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
    Amer J Hum Genet 1997; 60:1373-83.
  • Whatley SD, Puy H, Morgan RR et al.
    Variegate porphyria in western Europe: identification of PPOX mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
    Amer J Hum Genet 1999; 65: 984-94
  • Lamoril J, Puy H, Whatley SD et al.
    Characterisation of mutations in the CPO gene in British patients demonstrates absence of phenotype-genotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
    Amer J Hum Genet 2001; 68: 1130-38
  • Deacon AC, Elder GH.
    Front line tests for the investigation of suspected porphyria.
    J Clin Pathol 2001;54:500-07.