Atypical cystic fibrosis and CFTR-related diseases.
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.
Paranjape
Shruti M
SM
Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University, David M. Rubenstein Child Health Building, 200 North Wolfe Street, Baltimore, MD 21287, USA.
Zeitlin
Pamela L
PL
D000293:Adolescent; D000328:Adult; D000402:Airway Obstruction / Q000209:etiology; D001229:Aspergillosis, Allergic Bronchopulmonary / Q000209:etiology; D001232:Aspergillus fumigatus; D002712:Chlorides / Q000032:analysis; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism*; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation; D012141:Respiratory Tract Infections / Q000209:etiology; D013542:Sweat / Q000737:chemistry
C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator