TY - JOUR
T1 - Survey on the Prevalence of Rare Kidney Diseases in Sicily
AU - Maringhini, Silvio
AU - Cusumano, Rosa
AU - Miceli, Patrizia
AU - Castellino, Santina
AU - Chimenz, Roberto
AU - Dardanoni, Gabriella
AU - Ferrantelli, Angelo
AU - Granata, Antonio
AU - Santoro, Domenico
AU - Scondotto, Salvatore
PY - 2019/2/1
Y1 - 2019/2/1
N2 - Renal Diseases represent almost 6% of all Rare Diseases but are often misdiagnosed. In a survey made in Sicily in 2016, based on cases reported from all public hospitals according to a list of rare kidney diseases, we were able to collect 337 cases (199 males and 138 females). The highest prevalence was detected in children: 13.9 cases in 100.000 children; the mean age was 10, and the median 5 years, at the time of the diagnosis. Comparing our data with those available in the Sicilian Register of Rare Diseases we found that only 141 cases (54%) were present in the register. Promoting regional registries of rare kidney diseases in Italy may be useful for epidemiologic studies.
AB - Renal Diseases represent almost 6% of all Rare Diseases but are often misdiagnosed. In a survey made in Sicily in 2016, based on cases reported from all public hospitals according to a list of rare kidney diseases, we were able to collect 337 cases (199 males and 138 females). The highest prevalence was detected in children: 13.9 cases in 100.000 children; the mean age was 10, and the median 5 years, at the time of the diagnosis. Comparing our data with those available in the Sicilian Register of Rare Diseases we found that only 141 cases (54%) were present in the register. Promoting regional registries of rare kidney diseases in Italy may be useful for epidemiologic studies.
KW - rare diseases
KW - rare renal diseases
KW - renal disease
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M3 - Article
C2 - 30758154
VL - 36
JO - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
JF - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
SN - 0393-5590
IS - 1
ER -