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Diffuse Bronchiectasis of Genetic or Idiopathic Origin

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Orphan Lung Diseases

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Abstract

Bronchiectasis is a significant cause of morbidity and mortality. It is the end point of a pathological process. We should be aiming to identify at risk patients before they develop bronchiectasis and treat them aggressively to prevent disease progression. With improved social conditions and health care, infective causes of bronchiectasis have diminished in higher-income countries, and genetic causes are therefore relatively more common. The underlying cause of bronchiectasis should always be sought and readdressed, for example as discoveries of innate immune defects are made. ‘Idiopathic bronchiectasis’ should be a diagnosis of last resort. This chapter reviews potential genetic causes of bronchiectasis and suggests a plan for investigating the underlying aetiology. Management is discussed but it is important to note that suggested treatment strategies are often extrapolated from evidence in bronchiectasis associated with cystic fibrosis; this is likely to be inappropriate in diseases of differing pathophysiology. Rare lung diseases need to be moved out of the ‘orphan’ category by instigating multi-centre, multi-national clinical trials and producing disease-specific evidence-based guidelines.

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Author information

Authors and Affiliations

  1. Primary Ciliary Dyskinesia Centre, University Hospital Southampton, Southampton, UK

    Jane S. Lucas & Woolf T. Walker

  2. Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK

    Jane S. Lucas & Woolf T. Walker

  3. Bristol Royal Hospital for Children, Bristol, UK

    Katharine C. Pike

  4. PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK

    Amelia Shoemark

  5. Division of Molecular and Clinical Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK

    Amelia Shoemark

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  1. Jane S. Lucas
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  2. Katharine C. Pike
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  3. Woolf T. Walker
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  4. Amelia Shoemark
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Correspondence to Jane S. Lucas .

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Editors and Affiliations

  1. Department of Respiratory Medicine, National Coordinating Reference Centre for Rare Pulmonary Diseases (OrphaLung), Louis Pradel Hospital, University of Lyon, Lyon, France

    Vincent Cottin

  2. Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Roma, Italy

    Luca Richeldi

  3. National Jewish Health, Denver, CO, USA

    Kevin Brown

  4. Division of Pulmonary, Critical Care, and Sleep Medicine Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA

    Francis X. McCormack

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Lucas, J.S., Pike, K.C., Walker, W.T., Shoemark, A. (2023). Diffuse Bronchiectasis of Genetic or Idiopathic Origin. In: Cottin, V., Richeldi, L., Brown, K., McCormack, F.X. (eds) Orphan Lung Diseases. Springer, Cham. https://doi.org/10.1007/978-3-031-12950-6_25

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