Περίληψη:
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients. © 2008 European Cystic Fibrosis Society.
Συγγραφείς:
Castellani, C.
Cuppens, H.
Macek Jr., M.
Cassiman, J.J.
Kerem, E.
Durie, P.
Tullis, E.
Assael, B.M.
Bombieri, C.
Brown, A.
Casals, T.
Claustres, M.
Cutting, G.R.
Dequeker, E.
Dodge, J.
Doull, I.
Farrell, P.
Ferec, C.
Girodon, E.
Johannesson, M.
Kerem, B.
Knowles, M.
Munck, A.
Pignatti, P.F.
Radojkovic, D.
Rizzotti, P.
Schwarz, M.
Stuhrmann, M.
Tzetis, M.
Zielenski, J.
Elborn, J.S.
Λέξεις-κλειδιά:
antibiotic agent; pancreas enzyme; transmembrane conductance regulator, accuracy; breathing exercise; chronic pancreatitis; clinical feature; clinical practice; consensus development; cystic fibrosis; diabetes mellitus; diagnostic value; enzyme therapy; gene deletion; gene identification; gene insertion; gene mutation; gene rearrangement; genetic analysis; genetic association; genetic polymorphism; genetic screening; genotype; genotype phenotype correlation; geographic distribution; human; interdisciplinary communication; liver disease; lung infection; male infertility; meconium ileus; missense mutation; mutational analysis; nomenclature; nucleotide sequence; nutritional support; pathogenesis; prediction; prevalence; prognosis; quality control; review; sweat test; treatment outcome, Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA Mutational Analysis; Humans; Nutritional Status; Polymorphism, Genetic; Prognosis; Protein Splicing; Quality Control; Respiratory Function Tests; Terminology as Topic
