Genetics of Idiopathic Disseminated Bronchiectasis

Maurizio Luisetti; Pier Franco Pignatti

doi:10.1055/s-2003-39028

Seminars in Respiratory and Critical Care Medicine, Table of Contents

Semin Respir Crit Care Med 2003; 24(2): 179-184
DOI: 10.1055/s-2003-39028

Genetics of Idiopathic Disseminated Bronchiectasis

Maurizio Luisetti¹ , Pier Franco Pignatti²

¹Clinica di Malattie dell'Apparato Respiratorio, Laboratorio di Biochimica e Genetica, IRCCS Policlinico San Matteo, Università di Pavia, Pavia, Italy
²Sezione di Biologia e Genetica, DMIBG, Università di Verona, Verona, Italy

Abstract

ABSTRACT

Bronchiectasis is an abnormal dilation of bronchi, consequent to the destruction of their walls. It is included in the category of obstructive pulmonary diseases, along with chronic obstructive pulmonary disease (COPD), asthma, and cystic fibrosis. In approximately 50% of cases, bronchiectasis is associated with underlying conditions; in the remainder, known causes are not ascertainable (idiopathic bronchiectasis). A search for genetic determinants of this phenotype, with the cystic fibrosis gene as a candidate, has been performed by three independent groups. The results of this search agreed on the association of bronchiectasis with cystic fibrosis gene mutations and polymorphisms. The cystic fibrosis gene is also associated with bronchiectasis due to rheumatoid arthritis and allergic bronchopulmonary aspergillosis. A few other genes have been investigated in idiopathic bronchiectasis, with negative results. Idiopathic bronchiectasis is, therefore, to be considered as an obstructive multifactorial disorder belonging to the category of cystic fibrosis monosymptomatic diseases (or CFTR-opathies), whose pathogenesis is influenced by environmental factors and other undetermined genes.

KEYWORDS

Cystic fibrosis - cystic fibrosis gene - environment - multifactorial disorders - obstructive pulmonary disease

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