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Recommendations for the classification of diseases as CFTR-related disorders

C Bombieri1, M Claustres, K De Boeck

  • 1Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|June 11, 2011
PubMed

Insights

Consensus guidelines define cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs) as conditions with CFTR dysfunction not meeting full cystic fibrosis criteria. These guidelines aid in diagnosing CFTR-RDs like CBAVD and pancreatitis.

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Gastroenterology

Background:

  • Cystic Fibrosis (CF) has related diseases, but a clear definition is missing.
  • Expert consensus is needed to define CFTR-related disorders (CFTR-RDs).

Framework:

  • Proposed definition: CFTR-RD is a clinical entity with CFTR dysfunction, not meeting CF diagnostic criteria.
  • Guidelines developed through expert discussion and workshops.

Implementation:

  • Discusses diagnostic utility of sweat testing, mutation analysis, nasal potential difference, and intestinal current measurement.
  • Presents algorithms using genetic and functional tests for CF vs. CFTR-RD differentiation.

Implications:

  • Identifies congenital bilateral absence of vas deferens (CBAVD), pancreatitis, and bronchiectasis with CFTR dysfunction as CFTR-RDs.
  • Aims to standardize diagnosis and management of CFTR-RDs.

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