TY - JOUR
TI - Recommendations for the classification of diseases as CFTR-related disorders
AU - Bombieri, C.
AU - Claustres, M.
AU - De Boeck, K.
AU - Derichs, N.
AU - Dodge, J.
AU - Girodon, E.
AU - Sermet, I.
AU - Schwarz, M.
AU - Tzetis, M.
AU - Wilschanski, M.
AU - Bareil, C.
AU - Bilton, D.
AU - Castellani, C.
AU - Cuppens, H.
AU - Cutting, G.R.
AU - Drevínek, P.
AU - Farrell, P.
AU - Elborn, J.S.
AU - Jarvi, K.
AU - Kerem, B.
AU - Kerem, E.
AU - Knowles, M.
AU - Macek, M.
AU - Munck, A.
AU - Radojkovic, D.
AU - Seia, M.
AU - Sheppard, D.N.
AU - Southern, K.W.
AU - Stuhrmann, M.
AU - Tullis, E.
AU - Zielenski, J.
AU - Pignatti, P.F.
AU - Ferec, C.
JO - Journal of Cystic Fibrosis
PY - 2011
VL - 10
TODO - SUPPL. 2
SP - S86-S102
PB - 
SN - 1569-1993
TODO - 10.1016/S1569-1993(11)60014-3
TODO - chloride;  transmembrane conductance regulator, acute pancreatitis;  allele;  article;  bronchiectasis;  chronic pancreatitis;  clinical feature;  congenital bilateral absence of vas deferens;  congenital malformation;  coughing;  cystic fibrosis;  diagnostic procedure;  differential diagnosis;  disease association;  disease classification;  disease severity;  DNA polymorphism;  electrolyte transport;  gene interaction;  gene mutation;  heterozygosity;  human;  intestinal current measurement;  mutational analysis;  nasal potential difference;  newborn screening;  outcome assessment;  pancreas insufficiency;  potential difference;  respiratory tract disease;  respiratory tract infection;  sweat test, Cystic Fibrosis;  Cystic Fibrosis Transmembrane Conductance Regulator;  Europe;  Humans;  Medicine;  Practice Guidelines as Topic
TODO - 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. © 2011 European Cystic Fibrosis Society.
ER -