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The impact of mannose-binding lectin polymorphisms on lung function in primary ciliary dyskinesia

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@article{052f1b8d52ca412fabc92255950280d5,
title = "The impact of mannose-binding lectin polymorphisms on lung function in primary ciliary dyskinesia",
abstract = "OBJECTIVE: Primary ciliary dyskinesia (PCD) is a congenital lung disease that leads to recurrent and chronic lung infection. The resulting inflammation causes lung damage and declines in lung function. Mannose-binding lectin (MBL) is a first line host defense protein of importance for the innate immunity. Polymorphisms in the MBL gene named MBL2 result in unstable and low functional levels MBL proteins. MBL insufficiency is linked to an increased risk of lung infection and to declines in lung function in patients with cystic fibrosis. We investigated whether there is a similar link in patients with PCD.METHODS: This retrospective longitudinal study included 85 patients with PCD. Diagnostics and age at diagnosis were recorded, complete spirometry data starting at diagnosis, and Pseudomonas aeruginosa infection status over the last 2 years were collected, and the patients were grouped according to MBL2 genotype status (MBL2-sufficient or MBL2-deficient).RESULTS: MBL-deficient patients were diagnosed almost 3 years earlier than MBL-sufficient patients (median 6.1 vs 8.9 years, P  < 0.05). There were no differences in the first measured spirometry values, but MBL-deficient patients showed greater declines in forced expiratory volume in one sec (FEV1 ) than patients with MBL sufficiency (z-score: -0.049 per year [95{\%} CI, -0.075; -0.021] vs -0.009 per year [95{\%} CI, -0.033; 0.015]; P = 0.023). No differences were found in forced vital capacity (FVC), FEV1 /FVC, or infection status.CONCLUSION: MBL-deficiency, which is associated with MBL2 mutations, was associated with a lower age at diagnosis and with steeper declines in FEV1 in patients with PCD. This suggests that the MBL genotype might be a disease modifier in PCD.",
keywords = "mannose-binding lectin, outcome, primary cilia dyskinesia",
author = "Katja Videbaek and Frederik Buchvald and Holgersen, {Mathias Gelderman} and Alison Henriksen and Frank Eriksson and Peter Garred and Nielsen, {Kim Gjerum}",
note = "{\circledC} 2019 Wiley Periodicals, Inc.",
year = "2019",
month = "8",
day = "1",
doi = "10.1002/ppul.24346",
language = "English",
volume = "54",
pages = "1182--1189",
journal = "Pediatric Pulmonology",
issn = "8755-6863",
publisher = "John/Wiley & Sons, Inc. John/Wiley & Sons Ltd",
number = "8",

}

RIS

TY - JOUR

T1 - The impact of mannose-binding lectin polymorphisms on lung function in primary ciliary dyskinesia

AU - Videbaek, Katja

AU - Buchvald, Frederik

AU - Holgersen, Mathias Gelderman

AU - Henriksen, Alison

AU - Eriksson, Frank

AU - Garred, Peter

AU - Nielsen, Kim Gjerum

N1 - © 2019 Wiley Periodicals, Inc.

PY - 2019/8/1

Y1 - 2019/8/1

N2 - OBJECTIVE: Primary ciliary dyskinesia (PCD) is a congenital lung disease that leads to recurrent and chronic lung infection. The resulting inflammation causes lung damage and declines in lung function. Mannose-binding lectin (MBL) is a first line host defense protein of importance for the innate immunity. Polymorphisms in the MBL gene named MBL2 result in unstable and low functional levels MBL proteins. MBL insufficiency is linked to an increased risk of lung infection and to declines in lung function in patients with cystic fibrosis. We investigated whether there is a similar link in patients with PCD.METHODS: This retrospective longitudinal study included 85 patients with PCD. Diagnostics and age at diagnosis were recorded, complete spirometry data starting at diagnosis, and Pseudomonas aeruginosa infection status over the last 2 years were collected, and the patients were grouped according to MBL2 genotype status (MBL2-sufficient or MBL2-deficient).RESULTS: MBL-deficient patients were diagnosed almost 3 years earlier than MBL-sufficient patients (median 6.1 vs 8.9 years, P  < 0.05). There were no differences in the first measured spirometry values, but MBL-deficient patients showed greater declines in forced expiratory volume in one sec (FEV1 ) than patients with MBL sufficiency (z-score: -0.049 per year [95% CI, -0.075; -0.021] vs -0.009 per year [95% CI, -0.033; 0.015]; P = 0.023). No differences were found in forced vital capacity (FVC), FEV1 /FVC, or infection status.CONCLUSION: MBL-deficiency, which is associated with MBL2 mutations, was associated with a lower age at diagnosis and with steeper declines in FEV1 in patients with PCD. This suggests that the MBL genotype might be a disease modifier in PCD.

AB - OBJECTIVE: Primary ciliary dyskinesia (PCD) is a congenital lung disease that leads to recurrent and chronic lung infection. The resulting inflammation causes lung damage and declines in lung function. Mannose-binding lectin (MBL) is a first line host defense protein of importance for the innate immunity. Polymorphisms in the MBL gene named MBL2 result in unstable and low functional levels MBL proteins. MBL insufficiency is linked to an increased risk of lung infection and to declines in lung function in patients with cystic fibrosis. We investigated whether there is a similar link in patients with PCD.METHODS: This retrospective longitudinal study included 85 patients with PCD. Diagnostics and age at diagnosis were recorded, complete spirometry data starting at diagnosis, and Pseudomonas aeruginosa infection status over the last 2 years were collected, and the patients were grouped according to MBL2 genotype status (MBL2-sufficient or MBL2-deficient).RESULTS: MBL-deficient patients were diagnosed almost 3 years earlier than MBL-sufficient patients (median 6.1 vs 8.9 years, P  < 0.05). There were no differences in the first measured spirometry values, but MBL-deficient patients showed greater declines in forced expiratory volume in one sec (FEV1 ) than patients with MBL sufficiency (z-score: -0.049 per year [95% CI, -0.075; -0.021] vs -0.009 per year [95% CI, -0.033; 0.015]; P = 0.023). No differences were found in forced vital capacity (FVC), FEV1 /FVC, or infection status.CONCLUSION: MBL-deficiency, which is associated with MBL2 mutations, was associated with a lower age at diagnosis and with steeper declines in FEV1 in patients with PCD. This suggests that the MBL genotype might be a disease modifier in PCD.

KW - mannose-binding lectin

KW - outcome

KW - primary cilia dyskinesia

U2 - 10.1002/ppul.24346

DO - 10.1002/ppul.24346

M3 - Journal article

VL - 54

SP - 1182

EP - 1189

JO - Pediatric Pulmonology

JF - Pediatric Pulmonology

SN - 8755-6863

IS - 8

ER -

ID: 58007957