1Centro Regionale per la Fibrosi Cistica, Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Key words: Shwachman-Diamond syndrome, Registry, Rare diseases, Epidemiology
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.
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