Survey on the Prevalence of Rare Kidney Diseases in Sicily

Silvio Maringhini, Rosa Cusumano, Patrizia Miceli, Santina Castellino, Roberto Chimenz, Gabriella Dardanoni, Angelo Ferrantelli, Antonio Granata, Domenico Santoro, Salvatore Scondotto

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalGiornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Issue number1
Publication statusPublished - Feb 1 2019


  • rare diseases
  • rare renal diseases
  • renal disease

ASJC Scopus subject areas

  • Medicine(all)


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