Premium
Respiratory exacerbations in childhood associated with compound heterozygosity Phe508del/Arg117His‐7T of the cystic fibrosis transmembrane regulator gene
Author(s) -
Lee TWR,
Conway SP,
Peckham D,
Brownlee KG
Publication year - 2008
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2008.00716.x
Subject(s) - cystic fibrosis , compound heterozygosity , medicine , pseudomonas aeruginosa , heterozygote advantage , loss of heterozygosity , cystic fibrosis transmembrane conductance regulator , respiratory system , regulator , mutation , genotype , immunology , gene , genetics , biology , bacteria , allele
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. Conclusion: The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His‐7T should not necessarily be considered benign in childhood.