ABCMdb

PMID: 16426904

Lording A, McGaw J, Dalton A, Beal G, Everard M, Taylor CJ
Pulmonary infection in mild variant cystic fibrosis: implications for care.
J Cyst Fibros. 2006 May;5(2):101-4. Epub 2006 Jan 19., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg117His Methods: A retrospective cohort study was carried out comparing frequency of bacterial isolates and clinical outcomes in eleven compound heterozygotes for DF508 and a second mild mutation, mainly R117H, with a matched group of DF508 homozygotes. Login to comment 17 ABCC7 p.Arg117His For example, Chmiel et al. expressed their doubts over diagnosing CF in an asymptomatic infant with a DF508/R117H genotype [2]. Login to comment 28 ABCC7 p.Arg117His Methods A retrospective cohort study was carried out assessing frequency of bacterial isolates and clinical outcomes in a group of eleven patients (4 male) who were compound heterozygotes for the DF508 mutation and a second mild mutation, mainly R117H (Table 1a). Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His There was also a small but significant difference in chest radiograph (Chrispin-Norman) scores (median+range), (mild 5.1, 4-9 vs. severe 5.8, 3-10; p 0.04), although all eleven patients with mild phenotype showed some abnormality on chest X-ray Table 1a Patient details for mild variant cohort Age (years) Sex Genotype Splice site marker Sweat Na+ /Cl (mmol/l) Average Shwachman score/100 Average Chrispin-Norman score/38 Total positive sputum culturesa Positive sputum cultures/year (mean)a 3 Male dF508/R117H 7T/9T 91 5 0 0 5 Male dF508/R117H 7T/9T 93 6 15 2.8 7 Female dF508/R117H 7T/9T 51/49 91.7 7 13 3.3 11 Female dF508/3849+10 kb C>T Unknown 30/36 74.3 9 7 1.8 7 Female dF508/R117H 7T/9T 74/75 93.2 5.3 23 4.6 1 Male dF508/R117H 7T/9T 8 8 4 Female dF508/R117H 7T/9T 95 4 0 0 5 Female dF508/R117H 7T/9T 31/28 95 5.3 14 2.3 6 Female dF508/R117H 7T/9T 42/38 95 4.6 25 3.6 7 Male dF508/R117H 7T/9T 42/28 97 4 5 2.5 7 Female dF508/R117H 7T/7T 50/40 95.7 4.5 41 5.9 a Culture samples based on naso-pharyngeal aspirates/cough swabs/sputum cultures (age dependent). Login to comment