Maringhini Silvio, Cusumano Rosa, Miceli Patrizia, Castellino Santina, Chimenz Roberto, Dardanoni Gabriella, Ferrantelli Angelo, Granata Antonio, Santoro Domenico, Scondotto Salvatore
Dipartimento Pediatria, Istituto Mediterraneo dei Trapianti e Tecniche specialistiche (ISMETT), Palermo, Italia.
UOC Nefrologia Pediatrica, PO "G. Di Cristina", ARNAS Civico, Palermo, Italia.
G Ital Nefrol. 2019 Feb;36(1).
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.
肾脏疾病占所有罕见病的近6%,但常常被误诊。在2016年于西西里岛进行的一项调查中,根据所有公立医院按照罕见肾病清单报告的病例,我们收集到了337例病例(199名男性和138名女性)。儿童中的患病率最高:每10万名儿童中有13.9例;诊断时的平均年龄为10岁,中位数为5岁。将我们的数据与西西里岛罕见病登记册中的现有数据进行比较,我们发现登记册中仅记录了141例病例(54%)。在意大利推广地区性罕见肾病登记册可能对流行病学研究有用。