Michael P Boyle1. 1. Johns Hopkins Adult CF Program, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. mboyle@jhmi.edu
Abstract
PURPOSE OF REVIEW: To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene. RECENT FINDINGS: The growing recognition of "atypical" cases of cystic fibrosis presenting in adolescence or adulthood and manifested by disease in only one or two organ systems, along with CF diagnostic criteria based not only on sweat chloride values but genetic screening and nasal ion transport measurements, have made the diagnosis of CF less straightforward for many clinicians. SUMMARY: This review seeks to clarify the key diagnostic criteria for CF and uses the Cystic Fibrosis Foundation's Consensus Diagnostic Guidelines and recent publications to discuss the characteristics of classic CF, nonclassic CF, and CFTR-related diseases.
PURPOSE OF REVIEW: To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene. RECENT FINDINGS: The growing recognition of "atypical" cases of cystic fibrosis presenting in adolescence or adulthood and manifested by disease in only one or two organ systems, along with CF diagnostic criteria based not only on sweat chloride values but genetic screening and nasal ion transport measurements, have made the diagnosis of CF less straightforward for many clinicians. SUMMARY: This review seeks to clarify the key diagnostic criteria for CF and uses the Cystic Fibrosis Foundation's Consensus Diagnostic Guidelines and recent publications to discuss the characteristics of classic CF, nonclassic CF, and CFTR-related diseases.
Authors: Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon Journal: Eur J Hum Genet Date: 2008-08-06 Impact factor: 4.246
Authors: Jerry A Nick; Cathy S Chacon; Sara J Brayshaw; Marion C Jones; Christine M Barboa; Connie G St Clair; Robert L Young; David P Nichols; Jennifer S Janssen; Gwen A Huitt; Michael D Iseman; Charles L Daley; Jennifer L Taylor-Cousar; Frank J Accurso; Milene T Saavedra; Marci K Sontag Journal: Am J Respir Crit Care Med Date: 2010-05-06 Impact factor: 21.405
Authors: Matthew J McGinniss; Christina Chen; Joy B Redman; Arlene Buller; Franklin Quan; Mei Peng; Robert Giusti; Feras M Hantash; Donghui Huang; Weimin Sun; Charles M Strom Journal: Hum Genet Date: 2005-09-28 Impact factor: 4.132