Nonclassic cystic fibrosis and CFTR-related diseases
- 1 November 2003
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Pulmonary Medicine
- Vol. 9 (6) , 498-503
- https://doi.org/10.1097/00063198-200311000-00009
Abstract
To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene. 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. 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.Keywords
This publication has 38 references indexed in Scilit:
- Nonclassic cystic fibrosis: A clinical conundrumPediatric Pulmonology, 2003
- Pancreatitis aguda como forma de presentación de una fibrosis quísticaMedicina Clinica, 2003
- Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR genePediatric Pulmonology, 2002
- Variant Cystic Fibrosis Phenotypes in the Absence ofCFTRMutationsNew England Journal of Medicine, 2002
- Cystic fibrosis diagnosis: New dilemmas for an old disorderPediatric Pulmonology, 2002
- Agénésie déférentielle bilatérale et hernie inguinale chez un enfant. Une présentation précoce rare de la mucoviscidoseArchives de Pédiatrie, 2001
- Evidence of mild respiratory disease in men with congential absence of the vas deferensRespiratory Medicine, 1999
- Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic PancreatitisNew England Journal of Medicine, 1998
- Mutations of the Cystic Fibrosis Gene in Patients with Chronic PancreatitisNew England Journal of Medicine, 1998
- Nasal Potential Difference in Congenital Bilateral Absence of the Vas DeferensAmerican Journal of Respiratory and Critical Care Medicine, 1998