Recommendations for the classification of diseases as CFTR-related disorders.
J Cyst Fibros
; 10 Suppl 2: S86-102, 2011 Jun.
Article
in En
| MEDLINE
| ID: mdl-21658649
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Practice Guidelines as Topic
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Cystic Fibrosis
/
Medicine
Type of study:
Guideline
/
Qualitative_research
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
J Cyst Fibros
Year:
2011
Document type:
Article