porphyrie news nouvelles actualité

Il n'est pas évident de se procurer des articles sur les porphyries. Alors, si vous avez l'opportunité d'en lire, faîtes nous part de vos lectures et nous les publierons ici. Merci à vous !

Les articles ne sont que les résumés d'articles publiés sur différents sites médicaux (se procurer l'intégralité du document est hélas payant). Par ailleurs, nous vous laissons le soin de la traduction et, donc de l'interprétation. Si les notions médicales abordées vous semble trop complexes, n'hésitez pas par le biais du forum à poser des questions.

Septembre 2003 :

International air travel: a risk factor for attacks in acute intermittent porphyria.
Peters TJ, Deacon AC.
Department of Clinical Biochemistry, King's College Hospital, Denmark Hill, SE5 9RS, London, UK

Five patients are reported with acute intermittent porphyria in whom attacks were apparently precipitated by international air travel. In four subjects this was the initial presenting attack and in a fifth the cause of an acute relapse in a patient requiring regular haem arginate prophylaxis. Multifactorial precipitants implicated include, dehydration, missed meals, alcohol use, infection, chronic hypoxia, premenstrual syndrome and stress. Acute intermittent porphyria should be suspected in individuals presenting with unexplained acute abdominal pain following international air travel. Appropriate precautions may reduce the incidence of attacks in known porphyrics.

PMID: 12927685 [PubMed - in process]

Août 2003 :

Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Johansson A, Moller C, Harper P.
Porphyria Centre Sweden, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden.

Porphobilinogen deaminase (PBGD), the third enzyme in the biosynthesis of heme, is deficient in acute intermittent porphyria (AIP). AIP is a genetic disease characterized by neurovisceral and psychiatric disturbances. Despite a palliative treatment, it may still be lethal.

An initial step towards gene therapy was recently taken by showing that PBGD could be expressed to correct the enzyme deficiency in AIP fibroblasts. The aim of the present study was to investigate whether the biochemical defect can be corrected by using non-viral gene delivery. The biochemical defect in human and mouse PBGD deficient fibroblasts was demonstrated by analyzing synthesis of the heme precursor, protoporphyrin (PP), after addition of 5-aminolevulinic acid (ALA). Human AIP fibroblasts synthesized 21% and mouse PBGD deficient fibroblasts only 11% of the PP amount synthesized in respective control cells. Gene delivery increased the PBGD activity 88-200 fold in human AIP fibroblasts and synthesis of PP was increased from 21-152% of normal after ALA incubation. Similar results were obtained in mouse PBGD deficient cells, although the PP levels were several-fold lower as compared to human cells. HPLC analysis confirmed that PP was the main porphyrin intermediate that was formed. Addition of porphobilinogen (PBG) resulted in 3-7 fold lower synthesis of PP as compared to ALA addition. These results show that non-viral gene delivery of plasmids encoding PBGD results in a high expression of functional PBGD shown by induced synthesis of PP in PBGD deficient cells after supplementation of ALA and PBG.

PMID: 12962144 [PubMed - in process]

10.06.03

Conference PORPHYRINS and PORPHYRIAS 2003

réunion organisée par des spécialistes, pour des spécialistes du 21 au 25 Sept 2003, à Prague. Le site adjacent est en construction.

http://www.porphyrias2003.cz

Les organisateurs : Pr Pavel Martasek (Prague) et Pr Jean-Charles Deybach (Paris)

9.05.03

Courrier annuel du Centre Français des Porphyries, Pr DEYBACH

A propos du Normosang par voie orale : "... du fait des autorisations sanitaires maintenant obligatoires et longues, les premiers essais ont été retardés, mais je ne désespère pas de pouvoir vous donner des résultats en Octobre."

A propos de l'enzyme recombinante (traitement d'avenir) : "... la firme suédoise qui fabrique l'enzyme a préféré commencer ses essais aux États-Unis et en Australie..."

Rappel : le document dans son intégralité est disponible sur demande auprès du centre français des porphyries, tél. : 01.47.60.63.34

VENEZ !!!

SVP...