• Massimo Pifferi, Andrew Bush, Angela Michelucci, Maria Di Cicco, Martina Piras, Davide Caramella, Federica Mazzei, Maria Neri, Giovanni Pioggia, Gennaro Tartarisco, Giuseppe Saggese, Paolo Simi, and Attilio L Boner.
• Department of Pediatrics, University Hospital of Pisa, Pisa, Italy.
• Pediatr. Pulmonol. 2015 Feb 1; 50 (2): 179-86.

BackgroundMannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis.HypothesisMBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD).MethodsWe performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2.ResultsThe diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings.ConclusionsMBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.© 2014 Wiley Periodicals, Inc.

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