Next Article in Journal
Health Effects of Air Pollution in China
Next Article in Special Issue
Oral Symptoms and Oral Health-Related Quality of Life in People with Rare Diseases in Germany: A Cross-Sectional Study
Previous Article in Journal
Effect of C/N Ratio on the Removal of Nitrogen and Microbial Characteristics in the Water Saturated Denitrifying Section of a Two-Stage Constructed Rapid Infiltration System
Previous Article in Special Issue
General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey
Article Menu

Export Article

Open AccessArticle
Int. J. Environ. Res. Public Health 2018, 15(7), 1470; https://doi.org/10.3390/ijerph15071470

The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases

Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, 00161 Rome, Italy
*
Author to whom correspondence should be addressed.
Received: 1 June 2018 / Revised: 30 June 2018 / Accepted: 9 July 2018 / Published: 12 July 2018
View Full-Text   |   Download PDF [542 KB, uploaded 12 July 2018]   |  

Abstract

Knowledge of rare diseases (RD) is often scattered among many data collections and registries of patient cohorts. Therefore, assessing the burden of RD in the general population, developing appropriate policies and planning services for the care of RD patients is difficult. This study aimed at providing a systematic picture of RD occurrence in a population as big as 60 million. Data of diagnoses were certified and collected by a network of 247 specialized centres covering the whole Italian territory. Data received (about 200,000 records) were validated according to formal criteria and, where necessary, corrected by the data sources. Data of age at onset and sex distribution are given for about 400 diseases. Incidence and/or birth prevalence are given for 275 diseases and 47 disease groups, which, altogether, comprise a substantial part of the known rare diseases. Data quality, internal consistency, and external validity of the database have also been assessed and ways to limit the impact of some discrepancies were devised. The information provided by RNMR, cutting across such a wide range of RD, represents a unique coherent basis allowing the prioritization of relevant public health measures and research activities. View Full-Text
Keywords: rare diseases; national registry; data quality; epidemiology; Italy rare diseases; national registry; data quality; epidemiology; Italy
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Supplementary material

SciFeed

Share & Cite This Article

MDPI and ACS Style

Taruscio, D.; Vittozzi, L.; Rocchetti, A.; Torreri, P.; Ferrari, L. The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases. Int. J. Environ. Res. Public Health 2018, 15, 1470.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Environ. Res. Public Health EISSN 1660-4601 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top