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“Diffuse Bronchiectasis of Genetic Origin”

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Orphan Lung Diseases

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 the developed world, and genetic causes are therefore relatively more common. The underlying cause of bronchiectasis should always be sought and redressed, 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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Authors and Affiliations

  1. Clinical and Experimental Sciences Academic Unit (Mail Point 803), University of Southampton Faculty of Medicine, Tremona Road, Southampton, SO16 6YD, UK

    Jane S. Lucas FRCPCH, FRCP, PhD & Katharine C. Pike BA, BM, BCh, MA, MRCPCH, PhD

  2. NIHR Southampton Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK

    Jane S. Lucas FRCPCH, FRCP, PhD

  3. NIHR Southampton Respiratory Biomedical Research Unit, Department of Paediatrics, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK

    Katharine C. Pike BA, BM, BCh, MA, MRCPCH, PhD

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  1. Jane S. Lucas FRCPCH, FRCP, PhD
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  2. Katharine C. Pike BA, BM, BCh, MA, MRCPCH, PhD
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Correspondence to Jane S. Lucas FRCPCH, FRCP, PhD or Katharine C. Pike BA, BM, BCh, MA, MRCPCH, PhD .

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  1. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Vincent Cottin

  2. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Jean-Francois Cordier

  3. Respiratory Medicine, University of Southampton, Southampton, United Kingdom

    Luca Richeldi

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Lucas, J.S., Pike, K.C. (2015). “Diffuse Bronchiectasis of Genetic Origin”. In: Cottin, V., Cordier, JF., Richeldi, L. (eds) Orphan Lung Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-2401-6_4

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