Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries.
BACKGROUND
A 35-country European cystic fibrosis (CF) demographic registry was developed to compare outcomes (EuroCareCF EC-FP6).


METHODS
We applied methods that had successfully created country-specific registries inviting wide participation to obtain consent and collate demographic and CFTR genotype data.


RESULTS
Among 29,095 patients, a widely different country-specific prevalence of childhood CF exists that cannot be explained by differential population frequency of mutant-CFTR or case under-ascertainment with a significant paucity of the homozygous p.Phe508del genotype that presents in childhood in >90% of cases.


CONCLUSIONS
Excess premature childhood CF mortality may still occur. The better resourced Western Europe now has a ~5% mortality for childhood CF, which is not apparent in many of the European countries reported here. In addition, a female survival disadvantage exists. The reasons require further investigation. We showcase the value of simple data collection in one rare disease, which might interest those managing rare diseases across the globe.
Division of Medical Sciences, University of Dundee, Dundee, UK.
Gita
G
Mehta
Milan
M
Macek
Anil
A
Mehta
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D003550:Cystic Fibrosis / Q000235:genetics* / Q000401:mortality* / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D030541:Databases, Genetic / Q000706:statistics & numerical data*; D005060:Europe / Q000453:epidemiology; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012042:Registries / Q000706:statistics & numerical data*; D017678:Sex Distribution; D016896:Treatment Outcome
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator