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Mannose‐binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia
Author(s) -
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
Publication year - 2015
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23026
Subject(s) - primary ciliary dyskinesia , bronchiectasis , mannan binding lectin , medicine , immunology , cystic fibrosis , genotype , lung transplantation , sputum , spirometry , lung , respiratory disease , pathology , biology , lectin , asthma , gene , genetics , tuberculosis
Summary Background 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. Hypothesis MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). Methods 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. Results 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. Conclusions MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result. Pediatr Pulmonol. 2015; 50:179–186. © 2014 Wiley Periodicals, Inc.