Περίληψη:
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.
Συγγραφείς:
Bombieri, C.
Claustres, M.
De Boeck, K.
Derichs, N.
Dodge, J.
Girodon, E.
Sermet, I.
Schwarz, M.
Tzetis, M.
Wilschanski, M.
Bareil, C.
Bilton, D.
Castellani, C.
Cuppens, H.
Cutting, G.R.
Drevínek, P.
Farrell, P.
Elborn, J.S.
Jarvi, K.
Kerem, B.
Kerem, E.
Knowles, M.
Macek, M.
Munck, A.
Radojkovic, D.
Seia, M.
Sheppard, D.N.
Southern, K.W.
Stuhrmann, M.
Tullis, E.
Zielenski, J.
Pignatti, P.F.
Ferec, C.
Λέξεις-κλειδιά:
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
