Recommendations for the classification of diseases as CFTR-related disorders

https://doi.org/10.1016/S1569-1993(11)60014-3Get rights and content
Under an Elsevier user license
open archive

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.

Keywords

CFTR-related disorders
CBAVD (Congenital Bilateral Absence of Vas Deferens)
Pancreatitis
Bronchiectasis
Functional tests
NPD (Nasal Potential Difference)
ICM (Intestinal Current Measurement)

Cited by (0)