Prevalenza di malattie rare fra gli assistiti dei pediatri di libera scelta di un distretto sanitario torinese

Objectives - To detect the prevalence of rare diseases among the patients of family paediatricians in a health district in Turin, with particular regard to children under 15.
Methods - Research carried out through the analysis of computerized clinical records of the patients, selecting all the codes of rare disease, and through the comparison with free health care and some data of prosthetic service.
Results - The number of detected rare illnesses was far greater than the one for which free health care is provided. Celiac, instead, resulted to be the same number as prosthetic service. Free health care provided for rare disease compared to the whole resident population under 15 is 10.3 per thousand and corresponds to 118 patients. However, by analysing the survey carried out by family paediatricians on their patients under 15, it results that there are 161 rare diseases distributed in 158 patients.
Conclusion - The work was part of the Programme of Local Activities and has contributed to update both the regional register of rare diseases and the evaluations regarding the support organization of the Department of maternal and child’s health.