Challenges in making the diagnosis of Cystic Fibrosis in the 21st century

Onderzoeksoutput: PhD Thesis


Cystic fibrosis (CF) is mostly diagnosed with a sweat test. Otherwise, a genetic confirmation can be made if two CF-causing mutations are found on each CFTR-allele (Cystic Fibrosis Transmembrane Conductance Regulator). Insights in the basic defect of CF have resulted in the recognition of a wide spectrum of disease severity related to CFTR-protein dysfunction. Apart from the 'classic' CF patients, having pancreatic insufficiency and respiratory disease resulting in a reduced life expectancy, other conditions with CFTRdysfunction exist. Demarcation lines between these different entities are blurred. This thesis aims to give insights in the barriers a clinician can face in making a CF diagnosis. Nasal potential difference (NPD) measurement can be helpful in diagnostic inconclusiveness. In a semi-blinded study we showed that two different NPD methods (needle vs abrasion) could equally discriminate CF from non-CF individuals. The two methods were equally accepted by the study subjects, concluding that the operator's preferred NPD-method may be used. Little is known about rare CFTR-mutations (RM), present in only few CFpatients. To investigate RMs in Belgium, a CF-registry study was conducted. We found out that 6.5% of the Belgian CF patients carry at least one RM. Sixty-four RMs were found, of which 21 had not been previously reported in the global mutation database. As a group, these patients had milder disease compared to controls with classic CF; however a wide spectrum in disease severity was seen. To understand the disease liability of these RMs, a prospective collection of electrophysiological and clinical data is needed. This effort will enable to support or withdraw a CF diagnosis in patients with rare mutations in the future
Originele taal-2English
Toekennende instantie
  • Vrije Universiteit Brussel
  • Malfroot, Anne, Promotor
Datum van toekenning26 jun 2017
Plaats van publicatieBrussels
StatusPublished - 2017


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