The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Databases, Factual
/ statistics & numerical data
Female
Geography
Hospitals
/ statistics & numerical data
Humans
Huntington Disease
/ epidemiology
Incidence
Infant
Italy
/ epidemiology
Male
Middle Aged
Patient Discharge
/ statistics & numerical data
Prader-Willi Syndrome
/ epidemiology
Rare Diseases
/ epidemiology
Registries
/ statistics & numerical data
Telangiectasia, Hereditary Hemorrhagic
/ epidemiology
Young Adult
Huntington disease
Prader–Willi syndrome
hereditary haemorragic telangiectasia
hospital discharges
incidence rate ratio
rare diseases registry
Journal
Journal of public health (Oxford, England)
ISSN: 1741-3850
Titre abrégé: J Public Health (Oxf)
Pays: England
ID NLM: 101188638
Informations de publication
Date de publication:
01 03 2019
01 03 2019
Historique:
received:
16
03
2017
revised:
14
11
2017
pubmed:
3
1
2018
medline:
24
6
2020
entrez:
3
1
2018
Statut:
ppublish
Résumé
Italy has been the first country at European level to implement a population-based public health registry dedicated to rare diseases. This study describes the current situation of the Italian National Rare Diseases Registry (NRDR) and compares its data with those from the National Hospital Discharge Database (HDD). Three rare diseases were analysed: Huntington disease (HD), Hereditary Haemorragic Telangiectasia (HHT) and Prader-Willi Syndrome (PWS), selected for their different characteristics. The two sources (NRDR and HDD) were linked: incidence rate ratio (IRR), sensitivity and predictive positive value (PPV) were calculated. Incidence rates from NRDR and from HDD were compared by age groups, and IRR calculated: 1.08 for HD, 1.41 for HHT, 1.21 for PSW. For HD, sensitivity was 0.52 and PPV 0.48; for HHT sensitivity was 0.71 and PPV 0.52; for PWS the sensitivity was 0.71 and PPV 0.58. We found a strong regional variability in the results. The integrated use of the two sources helps tracking those cases that are not captured by the Registry; further, it is a precious tool to accurately describe clinical histories of rare disease affected individuals, in terms of concomitant pathologies and medical procedures performed during hospitalization.
Sections du résumé
BACKGROUND
Italy has been the first country at European level to implement a population-based public health registry dedicated to rare diseases. This study describes the current situation of the Italian National Rare Diseases Registry (NRDR) and compares its data with those from the National Hospital Discharge Database (HDD).
METHODS
Three rare diseases were analysed: Huntington disease (HD), Hereditary Haemorragic Telangiectasia (HHT) and Prader-Willi Syndrome (PWS), selected for their different characteristics. The two sources (NRDR and HDD) were linked: incidence rate ratio (IRR), sensitivity and predictive positive value (PPV) were calculated.
RESULTS
Incidence rates from NRDR and from HDD were compared by age groups, and IRR calculated: 1.08 for HD, 1.41 for HHT, 1.21 for PSW. For HD, sensitivity was 0.52 and PPV 0.48; for HHT sensitivity was 0.71 and PPV 0.52; for PWS the sensitivity was 0.71 and PPV 0.58. We found a strong regional variability in the results.
CONCLUSIONS
The integrated use of the two sources helps tracking those cases that are not captured by the Registry; further, it is a precious tool to accurately describe clinical histories of rare disease affected individuals, in terms of concomitant pathologies and medical procedures performed during hospitalization.
Identifiants
pubmed: 29294017
pii: 4779875
doi: 10.1093/pubmed/fdx176
doi:
Types de publication
Comparative Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
46-54Informations de copyright
© The Author(s) 2017. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.