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A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)

Lung volume 193, pages 815–822 (2015)Cite this article

Abstract

Introduction

Tracheobronchomegaly (Mounier-Kuhn Syndrome) is a rare disease characterized by tracheal enlargement and associated loss of elastic fibers in the trachea and main bronchi.

Materials

MEDLINE, Index Medicus, and other databases were searched with pre-defined criteria to identify cases of tracheobronchomegaly (TBM). Two new cases of TBM were also identified from the Provincial Medical Genetics Program of British Columbia.

Results

We identified 166 publications describing 365 occurrences of TBM. We observed that affected individuals could be grouped into subgroups according to clinical features. Type 1A (105 individuals) consists of infants who developed TBM after having undergone fetoscopic tracheal occlusion, and Type 1B patients (24 individuals) are infants and children who developed TBM after prolonged intubation. Type 2 individuals developed TBM following recurrent pulmonary infections (2A) (14 individuals) or pulmonary fibrosis (2B) (10 individuals). Type 3 represents TBM with evidence of extra-pulmonary elastolysis (18 individuals), and Type 4 denotes the development of TBM with no clear predisposing factors (196 individuals). Both of our patients had TBM and evidence of extra-pulmonary elastolysis. As well, one patient had a mildly dilated aortic root, which is a previously unreported co-occurrence.

Conclusion

We introduce a novel classification scheme, which may sort patients into etiologically distinct groups, furthering our understanding of its pathogenesis and potentially, prevention or therapy. We also hypothesize that TBM and generalized elastolysis may have etiological commonalities, suggesting a need for further study.

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Acknowledgments

This work was supported by the Rare Disease Foundation.

Author information

Affiliations

  1. Department of Medical Genetics, University of British Columbia, C234-4500 Oak Street, Vancouver, BC, V6H 3N1, Canada

    Jennifer Payandeh, Barbara McGillivray & Anna Lehman

  2. Child and Family Research Institute, Vancouver, BC, Canada

    Jennifer Payandeh, Barbara McGillivray & Anna Lehman

  3. Division of Respirology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada

    Graeme McCauley, Pearce Wilcox & John R. Swiston

Authors
  1. Jennifer Payandeh
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  2. Barbara McGillivray
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  3. Graeme McCauley
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  4. Pearce Wilcox
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  5. John R. Swiston
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  6. Anna Lehman
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Corresponding author

Correspondence to Anna Lehman.

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Payandeh, J., McGillivray, B., McCauley, G. et al. A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome). Lung 193, 815–822 (2015). https://doi.org/10.1007/s00408-015-9757-z

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  • DOI: https://doi.org/10.1007/s00408-015-9757-z

Keywords

  • Acquired cutis laxa
  • Connective tissue diseases
  • Generalized elastolysis
  • Mounier-Kuhn syndrome
  • Tracheobronchomegaly