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Atypical cystic fibrosis and CFTR-related diseases.
Clin Rev Allergy Immunol 2008; 35(3):116-23CR

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.

Authors+Show Affiliations

Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University, David M. Rubenstein Child Health Building, 200 North Wolfe Street, Baltimore, MD 21287, USA.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18493878

Citation

Paranjape, Shruti M., and Pamela L. Zeitlin. "Atypical Cystic Fibrosis and CFTR-related Diseases." Clinical Reviews in Allergy & Immunology, vol. 35, no. 3, 2008, pp. 116-23.
Paranjape SM, Zeitlin PL. Atypical cystic fibrosis and CFTR-related diseases. Clin Rev Allergy Immunol. 2008;35(3):116-23.
Paranjape, S. M., & Zeitlin, P. L. (2008). Atypical cystic fibrosis and CFTR-related diseases. Clinical Reviews in Allergy & Immunology, 35(3), pp. 116-23. doi:10.1007/s12016-008-8083-0.
Paranjape SM, Zeitlin PL. Atypical Cystic Fibrosis and CFTR-related Diseases. Clin Rev Allergy Immunol. 2008;35(3):116-23. PubMed PMID: 18493878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Atypical cystic fibrosis and CFTR-related diseases. AU - Paranjape,Shruti M, AU - Zeitlin,Pamela L, PY - 2008/5/22/pubmed PY - 2009/2/6/medline PY - 2008/5/22/entrez SP - 116 EP - 23 JF - Clinical reviews in allergy & immunology JO - Clin Rev Allergy Immunol VL - 35 IS - 3 N2 - 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. SN - 1080-0549 UR - https://www.unboundmedicine.com/medline/citation/18493878/Atypical_cystic_fibrosis_and_CFTR_related_diseases_ L2 - https://dx.doi.org/10.1007/s12016-008-8083-0 DB - PRIME DP - Unbound Medicine ER -