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

Katja Videbaek1, Frederik Buchvald1, Mathias Gelderman Holgersen1

  • 1Danish Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Pediatric Pulmonology
|April 24, 2019
PubMed
Abstract

Insights

Mannose-binding lectin (MBL) deficiency is linked to earlier diagnosis and faster lung function decline in primary ciliary dyskinesia (PCD) patients. This suggests MBL genotype may influence PCD progression.

Area of Science:

  • Immunology
  • Pulmonology
  • Genetics

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic lung infections and progressive lung damage.
  • Mannose-binding lectin (MBL) is crucial for innate immunity, and MBL2 gene variations can lead to insufficient MBL levels.
  • MBL insufficiency is associated with increased infection risk and lung function decline in cystic fibrosis.

Purpose of the Study:

  • To investigate the association between MBL2 genotype and disease progression in patients with PCD.
  • To determine if MBL deficiency impacts age at diagnosis, lung function decline, or infection rates in PCD.

Main Methods:

  • Retrospective longitudinal study of 85 PCD patients.
  • Data collected included diagnostics, age at diagnosis, spirometry, and Pseudomonas aeruginosa infection status.
  • Patients were genotyped for MBL2 sufficiency or deficiency.

Main Results:

  • MBL-deficient patients were diagnosed significantly earlier (median 6.1 vs. 8.9 years).
  • MBL-deficient patients exhibited a steeper decline in forced expiratory volume in one second (FEV1) over time compared to MBL-sufficient patients.
  • No significant differences were observed in forced vital capacity (FVC), FEV1/FVC ratio, or infection status.

Conclusions:

  • MBL deficiency, linked to MBL2 mutations, is associated with earlier diagnosis and accelerated FEV1 decline in PCD.
  • The MBL genotype may function as a disease modifier in primary ciliary dyskinesia.
Keywords:
mannose-binding lectinoutcomeprimary cilia dyskinesia

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