Sindrome di Shwachman-Diamond: uno studio collaborativo
GIGLIO L1, PETAROS P1, NERI E1; AMICI A, STEFANELLI M (Perugia); BARBERA C (Torino); BRUSCHI L (Pavia); CATASSI C (Ancona); CAVALERI G (Caltanisetta); CIMADAMORE N (Ivrea); CIPOLLI M, D’ORAZIO C (Verona); DI BONA E (Vicenza); FAILLA P (Troina); FARAGUNA D (Gorizia/Monfalcone); FILIPPI L (Firenze); FUSCO P (Savigliano); GENTILE T (L’Aquila); GHILARDI R (Milano); GUARISO G, VAROTTO S (Padova); LUCIDI V (Roma); MARCHI A (Pavia); MASI M (Bologna); MIANO A (Cesena); NOTARANGELO LD (Brescia); PADOAN R (Milano); PEROTTI P (Torino); POGGI V, MENNA G, RAIA V (Napoli); ROGGERO P (Milano); SACCHINI P (Rimini); SPATARO A (Palermo); STRAMARE D (Pordenone); TACCETTI G (Firenze); UGHI C (Pisa); VALERIOTI S (S. Giorgio Morgeto); MASTELLA G (Verona); ASSOCIAZIONE ITALIANA SINDROME DI SHWACHMAN (AISS)
1Centro Regionale per la Fibrosi Cistica, Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive
character, with quite variable clinical expression, course and prognosis. The mechanisms
of the disease are still not well understood, but effective symptomatic treatment is available.
The Authors describe the epidemiology of the disease as derived from the data collected
through the development of an Italian registry, and underline the importance of
networking and collaboration among specialists to provide optimal and consistent management
of cases across the country. 56 cases were identified (1 per 1 million residents). Although
the identification of all cases may not yet be complete, this is the largest available national
series of SD syndrome.
