Survey on the Prevalence of Rare Kidney Diseases in Sicily

Abstract

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.

Keywords: renal disease, rare diseases, rare renal diseases

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INTRODUZIONE

Le malattie renali rare rappresentano il 6% delle malattie “rare” che, per definizione, sono quelle che colpiscono meno di cinque persone ogni 10.000. Le malattie renali rare includono più di cento patologie, spesso a patogenesi genetica ed ereditaria ed esordio in età pediatrica (1).  

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