title: [The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].
abstract: Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is a characterized by the involvement of several systems: renal, neurological, hearth, cochleovestibular and cutaneous systems are the most involved. Despite recent studies have provided new insights in the this disease, there are still lacks and discrepancies among all insiders regarding the diagnosis, clinical and therapeutic management. Enzyme replacement have been demonstrated to improve the course of the disease, especially when the diagnosis is early. There are still some debates on diagnosis and management of patients, in particular in the heterozygote female and the start of enzyme replacement. Thus, an Italian board, composed by nephrologists, cardiologists, genetics, pediatricians and neurologists has been established in order to approve through a consensus a diagnostic and therapeutic Italian management. Authors report the renal clinical and therapeutic management, a useful tool either for expert physicians or for those with a few experience in the diagnosis and management of this disease.
authors.forename: Renzo
authors.initials: R
authors.lastname: Mignani
authors.forename: Maurizio
authors.initials: M
authors.lastname: Gallieni
authors.forename: Sandro
authors.initials: S
authors.lastname: Feriozzi
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.forename: Nicola
authors.initials: N
authors.lastname: Marziliano
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
mesh_terms: D000795:Fabry Disease / Q000150:complications; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D008297:Male