Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Panayiotis K YiallourosAndreas Μ MatthaiouPinelopi AnagnostopoulouPanayiotis KouisMalgorzata LibikTonia AdamidiAdonis EleftheriouArtemios DemetriouPhivos IoannouGeorge A TantelesConstantina CostiPavlos FanisMilan MacekVassos NeocleousLeonidas A PhylactouPublished in: Orphanet journal of rare diseases (2021)
CF patient registries are particularly important in small or isolated populations, such as in Cyprus, with rare or unique disease cases. Their operation is necessary for the optimization of clinical care provided to CF patients, enabling their majority to benefit from evolving advances in precision medicine.
Keyphrases
- cystic fibrosis
- pseudomonas aeruginosa
- lung function
- end stage renal disease
- case report
- copy number
- newly diagnosed
- quality improvement
- healthcare
- ejection fraction
- chronic kidney disease
- palliative care
- genome wide
- chronic obstructive pulmonary disease
- transcription factor
- patient reported
- affordable care act
- health insurance