Clinical Reviews in Allergy & Immunology

, Volume 35, Issue 3, pp 116–123

Atypical Cystic Fibrosis and CFTR-Related Diseases

Article

DOI: 10.1007/s12016-008-8083-0

Cite this article as:
Paranjape, S.M. & Zeitlin, P.L. Clinic Rev Allerg Immunol (2008) 35: 116. doi:10.1007/s12016-008-8083-0

Abstract

Cystic fibrosis (CF), which is among the most common life-shortening recessive illnesses, is caused by mutations of the CF transmembrane conductance regulator (CFTR) and typically involves chronic infection and progressive obstruction of the respiratory tract as well as pancreatic exocrine insufficiency. Disease severity, to some extent, correlates with organ sensitivity to CFTR dysfunction and to the amount of functional protein, which is influenced by the type of mutation. Atypical CF represents approximately 2% of affected individuals, and includes cases presenting in adolescence or adulthood with pancreatic exocrine sufficiency, normal or borderline sweat chloride concentrations, or with a single predominant clinical feature. This review briefly describes diagnostic methods and phenotypic characteristics of classic and atypical CF, as well as CFTR-related diseases, conditions in which mutated CFTR may contribute to the pathogenesis but do not strictly fit established diagnostic criteria.

Keywords

Cystic fibrosis CF transmembrane conductance regulator Mutations 

Copyright information

© Humana Press Inc. 2008

Authors and Affiliations

  1. 1.Eudowood Division of Pediatric Respiratory SciencesThe Johns Hopkins UniversityBaltimoreUSA