Respiratory exacerbations in childhood associated with compound heterozygosity Phe508del/Arg117His-7T of the cystic fibrosis transmembrane regulator gene.
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.
Lee
T W R
TW
Leeds Regional Paediatric Cystic Fibrosis Centre, St James's University Hospital, Leeds, United Kingdom. timlee@doctors.org.uk
Conway
S P
SP
Peckham
D
D
Brownlee
K G
KG
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
D019005:Cystic Fibrosis Transmembrane Conductance Regulator