Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles

Davies, J.C., Turner, M.W., Klein, N., Fidler, Katty, Unset, Unset, Unset, Unset, Unset, Unset, Unset and Unset (2004) Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. European Respiratory Journal, 24 (5). pp. 798-804. ISSN 0903-1936

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Mannose-binding lectin has recently been identified as a modifier of
severity in cystic fibrosis, although studies have produced differing results and the
mechanism of action remains unclear.
The current authors have studied large cohorts of adults (n=298) and children (n=260)
to explore this apparent relationship further.
Adults with two structural mutations, but not heterozygotes, had significantly
reduced lung function and oxygen saturations, more frequent hospital admissions and
raised systemic inflammatory markers. This was not related to increased rates of
infection with Pseudomonas aeruginosa, and there was no increased susceptibility to
Burkholderia cepacia. None of these findings was mirrored in the paediatric cohort.
In conclusion, severe mannose-binding lectin deficiency appears to be detrimental to
cystic fibrosis adults, although heterozygotes are not affected. It is suggested that this is
not related to impaired complement-mediated bacterial killing, and a link with the host
inflammatory response is hypothesised. If mannose-binding lectin replacement is
developed as a new approach to treatment for this disease, the present study would
suggest that the small group of severely deficient patients with two structural mutations
may be the group to benefit.

Item Type: Article
Additional Information: IDS Number: 869UI
Keywords: Collectin, inflammation, lung function, modifier gene, phenotype, polymorphism
Schools and Departments: Brighton and Sussex Medical School > Clinical and Experimental Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RJ Pediatrics
Depositing User: Laura Downs
Date Deposited: 26 Aug 2011 13:58
Last Modified: 28 Jun 2012 13:05
Google Scholar:58 Citations
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