title: Respiratory exacerbations in childhood associated with compound heterozygosity Phe508del/Arg117His-7T of the cystic fibrosis transmembrane regulator gene.
abstract: Debate continues regarding the clinical implications for compound heterozygotes identified with Phe508del and Arg117His-7T mutations of the cystic fibrosis transmembrane regulator (CFTR) gene. We report respiratory exacerbations and airway culture of Staphylococcus aureus and Pseudomonas aeruginosa in a child with this genotype.
  
  
  CONCLUSIONS
  The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His-7T should not necessarily be considered benign in childhood.
authors.affiliation: Leeds Regional Paediatric Cystic Fibrosis Centre, St James's University Hospital, Leeds, United Kingdom. timlee@doctors.org.uk
authors.forename: T W R
authors.initials: TW
authors.lastname: Lee
authors.forename: S P
authors.initials: SP
authors.lastname: Conway
authors.forename: D
authors.initials: D
authors.lastname: Peckham
authors.forename: K G
authors.initials: KG
authors.lastname: Brownlee
mesh_terms: D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000000981:diagnostic imaging / Q000382:microbiology / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D011859:Radiography
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator