| 000 | 03484cam a2200493 4500500 | ||
|---|---|---|---|
| 005 | 20250121154701.0 | ||
| 041 | _afre | ||
| 042 | _adc | ||
| 100 | 1 | 0 |
_aVentura, Paolo _eauthor |
| 700 | 1 | 0 |
_a Brancaleoni, Valentina _eauthor |
| 700 | 1 | 0 |
_a Di Pierro, Elena _eauthor |
| 700 | 1 | 0 |
_a Graziadei, Giovanna _eauthor |
| 700 | 1 | 0 |
_a Macrì, Annelise _eauthor |
| 700 | 1 | 0 |
_a Carmine Guida, Claudio _eauthor |
| 700 | 1 | 0 |
_a Nicolli, Annamaria _eauthor |
| 700 | 1 | 0 |
_a Rossi, Maria Teresa _eauthor |
| 700 | 1 | 0 |
_a Granata, Francesca _eauthor |
| 700 | 1 | 0 |
_a Fiorentino, Valeria _eauthor |
| 700 | 1 | 0 |
_a Fustinoni, Silvia _eauthor |
| 700 | 1 | 0 |
_a Sala, Raffella _eauthor |
| 700 | 1 | 0 |
_a Pinton, Piergiacomo Calzavara _eauthor |
| 700 | 1 | 0 |
_a Trevisan, Andrea _eauthor |
| 700 | 1 | 0 |
_a Marchini, Stefano _eauthor |
| 700 | 1 | 0 |
_a Cuoghi, Chiara _eauthor |
| 700 | 1 | 0 |
_a Marcacci, Matteo _eauthor |
| 700 | 1 | 0 |
_a Corradini, Elena _eauthor |
| 700 | 1 | 0 |
_a Sorge, Fiammetta _eauthor |
| 700 | 1 | 0 |
_a Aurizi, Caterina _eauthor |
| 700 | 1 | 0 |
_a Savino, Maria Grazia _eauthor |
| 700 | 1 | 0 |
_a Cappellini, Maria Domenica _eauthor |
| 700 | 1 | 0 |
_a Pietrangelo, Antonello _eauthor |
| 245 | 0 | 0 | _aClinical and molecular epidemiology of erythropoietic protoporphyria in Italy |
| 260 | _c2020. | ||
| 500 | _a58 | ||
| 520 | _aBackground: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. Objective: To provide epidemiological data of EPP in Italy. Materials & Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). Results: In total, 179 patients (79 females) with a clinical and biochemical diagnosis of EPP were assessed, revealing a prevalence of 3.15 cases per million persons and an incidence of 0.13 cases per million persons/year. Incidence significantly increased after 2009 (due to the availability of alfa-melanotide, which effectively limits skin photosensitivity). Mean age at diagnosis was 28 years, with only 22 patients (12.2%) diagnosed ≤10 years old. Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FECH mutations on one allele in association with the hypomorphic variant, c.315-48C, on the other (classic EPP), and nine (5.2%) were ALAS2 mutations (X-linked EPP). Only one case of autosomal recessive EPP was observed. Of the 42 different FECH mutations, 15 are novel, three mutations collectively accounted for 45.9% (75/164) of the mutations (c.215dupT [27.2%], c.901_902delTG [11.5%] and c.67 + 5G > A [7.2%]), and frameshift mutations were prevalent (33.3%). A form of light protection was used by 109/179 (60.8%) patients, and 100 (56%) had at least one α-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed. Conclusion: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy. | ||
| 690 | _aX-Link EPP | ||
| 690 | _aprotoporphyrin | ||
| 690 | _acutaneous porphyrias | ||
| 690 | _aferrochelatase | ||
| 690 | _aphotodermatosis | ||
| 690 | _aerythropoietic protoporphyria | ||
| 786 | 0 | _nEuropean Journal of Dermatology | 30 | 5 | 2020-09-01 | p. 532-540 | 1167-1122 | |
| 856 | 4 | 1 | _uhttps://shs.cairn.info/revue-european-journal-of-dermatology-2020-5-page-532?lang=en&redirect-ssocas=7080 |
| 999 |
_c602988 _d602988 |
||