By
San Giovanni Rotondo (Foggia)
Senternavn
Interregional Reference Center for the prevention, surveillance, diagnosis and treatment of porphyria
Full address
Viale Cappuccini, 1
71013 San Giovanni Rotondo (Foggia)
Italy
Email
nefrologia.porremovefiria@operapadrepio.it
Director
Dr.ssa Annalisa Crisetti
Activities
Ambulatory medical examination and subsequent checks Biochemical tests such as ALA, PBG, Total and fractioned porphyrins, Faecal porphyrins, Plasma fluorescence test
Genetic tests: HMBS, UROD, UROS, CPOX, PPOX, FECH
Specific therapy for acute porphyria (hemin) and salassotherapy
Eligibility for use of afamelanotide (Scenesse)
Issue of certification of illness and treatment plans
Hospitalization
Connection with specialist figures from the entire hospital structure for optimal classification of the patient (dedicated multi-specialist team)
Founding center of the GrIP (Italian Group of Porphyria)
Venue of "Friends of Porphyria" Association - San Pio da Pietrelcina - ONLUS
Clinical questions contact
Dr.ssa Annalisa Crisetti
Laboratory contact
Maria SAVINO, Biologist and Geneticist
Email
mg.savremoveino@operapadrepio.it