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Recommendations for the classification of diseases as CFTR-related disorders.
- Source :
-
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2011 Jun; Vol. 10 Suppl 2, pp. S86-102. - Publication Year :
- 2011
-
Abstract
- Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops. A CFTR-RD may be defined as "a clinical entity associated with CFTR dysfunction that does not fulfil diagnostic criteria for CF". The utility of sweat testing, mutation analysis, nasal potential difference, and/or intestinal current measurement for the differential diagnosis of CF and CFTR-RD is discussed. Algorithms which use genetic and functional diagnostic tests to distinguish CF and CFTR-RDs are presented. According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs.<br /> (Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1873-5010
- Volume :
- 10 Suppl 2
- Database :
- MEDLINE
- Journal :
- Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
- Publication Type :
- Academic Journal
- Accession number :
- 21658649
- Full Text :
- https://doi.org/10.1016/S1569-1993(11)60014-3