title: Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype.
abstract: We report 3 cystic fibrosis newborn screen-positive infants with the DeltaF508/R117H-7T genotype who had Pseudomonas aeruginosa detected in oropharyngeal cultures early in life and a fourth who had pulmonary symptoms and Gram-negative growth on multiple oropharyngeal cultures. All 4 patients were followed prospectively from the time of genetic diagnosis. As many regions implement newborn screening for cystic fibrosis, there is concern regarding which mutations should be included in genetic panels used to make the cystic fibrosis diagnosis. Some have recommended that mutations not specifically associated with classic cystic fibrosis be excluded. Our cases highlight the importance of considering keeping so-called mild mutations on cystic fibrosis newborn screening panels and the need to follow children with these mutations closely.
authors.affiliation: Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA. osullivb@ummhc.org
authors.forename: Brian P
authors.initials: BP
authors.lastname: O'Sullivan
authors.forename: Robert G
authors.initials: RG
authors.lastname: Zwerdling
authors.forename: Henry L
authors.initials: HL
authors.lastname: Dorkin
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Comeau
authors.forename: Richard
authors.initials: R
authors.lastname: Parad
mesh_terms: D017668:Age of Onset; D001120:Arginine; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006639:Histidine; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000209:etiology*; D008297:Male; D020125:Mutation, Missense; D015997:Neonatal Screening; D017354:Point Mutation; D011552:Pseudomonas Infections / Q000209:etiology*; D011550:Pseudomonas aeruginosa
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006639:Histidine; D001120:Arginine