Mannose‐binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. Issue 2 (19th April 2014)

• Record Type: Journal Article
• Authors: Pifferi, Massimo; Bush, Andrew; Michelucci, Angela; Di Cicco, Maria; Piras, Martina; Caramella, Davide; Mazzei, Federica; Neri, Maria; Pioggia, Giovanni; Tartarisco, Gennaro; Saggese, Giuseppe; Simi, Paolo; Boner, Attilio L
• Is Part Of: Pediatric pulmonology. Volume 50:Issue 2(2015:Feb.)
• Page Start: 179
• Page End: 186
• Publication Date: 2014-04-19
• Subjects: Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.23026
• Languages: English
• ISSNs: 8755-6863

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Summary</title> <sec id="ppul23026-sec-0001" sec-type="section"> <title>Background</title> <p>Mannose‐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.</p> </sec> <sec id="ppul23026-sec-0002" sec-type="section"> <title>Hypothesis</title> <p>MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD).</p> </sec> <sec id="ppul23026-sec-0003" sec-type="section"> <title>Methods</title> <p>We 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.</p> </sec> <sec id="ppul23026-sec-0004" sec-type="section"> <title>Results</title> <p>The 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.</p> </sec> <sec id="ppul23026-sec-0005" sec-type="section"> <title>Conclusions</title> <p>MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result. <bold>Pediatr Pulmonol. 2015; 50:179–186.</bold> © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>