Bronchiectasis in congenital diseases: Pathogenesis, imaging, diagnostic approach
More details
Hide details
Pneumonology Department, “Venizeleio-Pananeio” General Hospital, Herakleion, Crete
Department of Computed Tomography, “Venizeleio-Pananeio” General Hospital, Herakleion, Crete
Corresponding author
Konstantinos Pappas   

Pneumonology Department, “Venizeleio-Pananeio” General Hospital, Herakleion, Crete Knossos Avenue, POB 44, GR-71300, Herakleion, Crete
Pneumon 2011;24(3):248-262
Bronchiectasis is defined as the abnormal, irreversible dilatation of the cartilage containing airways in the context of repeated cycles of airway infection and inflammation. Many pulmonary syndromes and systemic diseases have been described that have bronchiectasis as an integral feature. Contrary to earlier perceptions that it is an “orphan disease”, bronchiectasis appears to be underdiagnosed, especially in childhood, and new disease associations continue to be described. With the advent of high resolution computerized tomography (HRCT) scanning, bronchiectasis has been demonstrated as an important cause of respiratory disease that may predispose to premature mortality. This long-neglected illness should receive more research attention in order to provide better understanding of its aetiology, pathogenesis and multimodality treatment.
Barker AF. Bronchiectasis. N Engl J Med 2002;346(18):1383-93.
King P, Holdsworth S, Freezer N, Holmes P. Bronchiectasis. Int Med J 2006;36:729-37.
King PT, Holdsworth SR, Freezer NJ, Villanueva E, Gallagher M, Holmes PW. Outcome in adult bronchiectasis. COPD 2005;2:27-34.
Karadag B, Karakoc F, Ersu R, Kut A, Bakac S, Dagli E. Noncystic-fibrosis bronchiectasis in children: A persisting problem in developing countries. Respiration 2005;72:233-8.
Eastham KM, Fall AJ, Mitchell L, Spencer DA. The need to redefine non-cystic fibrosis bronchiectasis in childhood. Thorax 2004;59:324-7.
Sturm R. Age-dependence and intersubject variability of tracheobronchial particle clearance. Pneumon 2011;24:77-85.
Fuschillo S, De Felice A, Balzano G. Mucosal inflammation in idiopathic bronchiectasis: cellular and molecular mechanisms. Eur Respir J 2008;31:396-406.
Morrissey BM. Pathogenesis of bronchiectasis. Clin Chest Med 2007;28:289-96.
King P. Bronchiectasis and chronic rhinosinusitis. Respir Med CME 2008;1:284-5.
Fall A, Spencer D. Paediatric bronchiectasis in Europe: what now and where next? Paediatr Respir Rev 2006;7:268-74.
Li AM, Sonnappa S, Lex C, et al. Non-CF bronchiectasis: does knowing the aetiology lead to changes in management? Eur Respir J 2005;26:8-14.
J Angrill, C Agustí, R de Celis, et al. Bacterial colonization in patients with bronchiectasis: Microbiological pattern and risk factors. Thorax 2002; 57:15-9.
Klingman KL, Pye A, Murphy TF, Hill SL. Dynamics of respiratory tract colonization by Branhamella catarrhalis in bronchiectasis. Am J Respir Crit Care Med 1995;152:1072-8.
King PT, Holdsworth SR, Freezer NJ, Villanueva E, Holmes PW. Microbiologic follow-up study in adult bronchiectasis. Respir Med 2007;101:1633-8.
Λουκίδης Σ. Ο ρόλος του συμπυκνώματος του εκπνεόμενου αέρα στην αξιολόγηση της φλεγμονής των αεραγωγών. Πνεύμων 2004;17:39-44.
Martínez-García MA, Soler-Cataluña JJ, Perpiñá-Tordera M, Román-Sánchez P, Soriano J. Factors associated with lung function decline in adult patients with stable non-cystic fibrosis bronchiectasis. Chest 2007;132:1565-72.
Karampela I, Dimopoulos G. Immunomodulatory actions of antibiotics. Pneumon 2008;21:33-44.
Νικολούζος Σ, Σταματελόπουλος Α. Διαγνωστική και θεραπευτική προσέγγιση στη μαζική αιμόπτυση. Πνεύμων 2006;19:192 201.
Pappas K, Pentheroudaki A, Ferdoutsis E, Meletis G, Patsourakis G, Bachlitzanakis N. Primary bronchiolar disorders: diagnosis and treatment. Pneumon 2010;23:64-79.
Rossi UG, Owens CM. The radiology of chronic lung disease in children. Arch Dis Child 2005;90:601-7.
Hansell DM. Bronchiectasis. Radiol Clin North Am 1998;36:107- 28.
Gupta S, Siddiqui S, Haldar P, et al. Qualitative analysis of high resolution computed tomography scans in severe asthma. Chest 2009;136:1521-8.
Agarwal R. Bronchiectasis in acute pneumonia … Pseudobronchiectasis. Chest 2007;132:2054-5.
Gershman AJ, Mehta AC, Infeld M, Budev MM. Cystic fibrosis in adults: an overview for the internist. Cleve Clin J Med 2006;73:1065-74.
British Thoracic Society Working Group on Home Oxygen Services: Clinical component for the home oxygen service in England and Wales, 2004;
Ιγγλέζος Ηλ. Αναπνευστικά προβλήματα στον ενήλικα με κυστική ίνωση. Πνεύμων 2003;16:23-5.
Fitzpatrick SB, Rosenstein BJ, Langbaum TS. Diagnosis of cystic fibrosis during adolescence. J Adolesc Health Care 1986;7:38- 43.
Fraser RS, Colman N, Müller NL, Paré PD. Disease of the airways. In: Fraser RS, Colman N, Müller NL, Paré PD (eds), Synopsis of Diseases of the Chest, 1st ed, Elsevier Saunders, Philadelphia;2005, pp 627-713.
Brody AS, Klein JS, Molina PL, Quan J, Bean JA, Wilmott RW. High-resolution computed tomography in young patients with cystic fibrosis: distribution of abnormalities and correlation with pulmonary function tests. J Pediatr 2004;145:32-8.
Satir P, Christensen ST. Overview of structure and function of mammalian cilia. Annu Rev Physiol 2007;69:14.1-14.24.
Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. 2007;92:1136-40.
Geremek M, Witt M. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet 2004;45:347-61.
Kartagener M, Stucki P. Bronchiectasis with situs inversus. Arch Pediatr 1962;79:193-207.
Narayan D, Krishnan SN, Upender M, et al. Unusual inheritance of primary ciliary dyskinesia (Kartagener’s syndrome). J Med Genet 1994;31:493-6.
Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-67.
Hünseler C, Lange L, Kribs A, Vierzig A, Roth B. Primary ciliary dyskinesia causing neonatal respiratory distress. Klin Padiatr 2009;221:440-3.
Leigh MW, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr 2009;21:320-5.
Kennedy MP, Noone PG, Leight MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol 2007;188:1232-8.
Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002;91:667-9.
Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997;10:2376-9.
Mead J, Sly P, Le Souef P, Hibbert M, Phelan P. Rib cage mobility in pectus excavatum. Am Rev Respir Dis 1985;132:1223-8.
Eroglu A, Kurkcuoglu IC, Karaoglanoglu N, Ikbal M. Pectus excavatum and situs inversus totalis: a new combination or a coincidence? Genet Couns 2004;15:227-8.
Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-21.
Afzelius BA, Mossberg B, Bergström SE. Immotile-cilia syndrome (primary ciliary dyskinesia) including Kartagener syndrome. In: Scriver, CR, Beaudet, AL, Sly, WS, Vale, D (eds), The Metabolic and Molecular Bases of Inherited Disease, 8th ed, McGraw Hill, New York;2001, pp 4817–27.
Bonneau D, Raymond F, Kremer C, Klossek JM, Kaplan J, Patte F. Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. J Med Genet 1993;30:253-4.
Young D. Surgical treatment of male infertility. J Reprod Fertil 1970;23:541-2.
Shiraishi K, Ono N, Eguchi S, Mohri J, Kamiryo Y, Takihara H. Young’s syndrome associated with situs inversus totalis. Arch Androl 2004;50:169-72.
Ichioka K, Kohei N, Okubo K, Nishiyama H, Terai A. Obstructive azoospermia associated with chronic sinopulmonary infection and situs inversus totalis. Urology 2006;68:204.e5-7.
Friedman KJ, Teichtahl H, De Kretser DM, et al. Screening Young syndrome patients for CFTR mutations. Am J Respir Crit Care Med 1995;152(4 Pt 1):1353-7.
Hendry WF, A’Hern RP, Cole PJ. Was Young’s syndrome caused by exposure to mercury in childhood? Br Med J 1993;307:1579- 82.
Handelsman DJ, Conway AJ, Boylan LM, Turtle JR. Young’s syndrome. Obstructive azoospermia and chronic sinopulmonary infections. N Engl J Med 1984;310:3-9.
Pasteur MC, Helliwell SM, Houghton SJ, et al. An investigation into causative factors in patients with bronchiectasis. Am J Respir Crit Care Med 2000;162(4 Pt 1):1277-84.
Zeimpekoglou K. The rοle of B-lymphocytes in lung disease. Pneumon 2008; 21:196–9.
Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006;85:193-202.
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: Clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48.
Hill SL, Mitchell JL, Burnett D, Stockley RA. IgG subclasses in the serum and sputum from patients with bronchiectasis. Thorax 1998;53:463-8.
Maguire GA, Kumararatne DS, Joyce HJ. Are there any clinical indications for measuring IgG subclasses? Ann Clin Biochem 2002;39(Pt 4):374-7.
Eriksson S. Studies in alpha-1 antitrypsin deficiency. Acta Med Scand 1965;177:1-85.
Guest PJ. Hansell DM. High resolution computed tomography (HRCT) in emphysema associated with alpha-1-antitrypsin deficiency. Clin Radiol 1992;45:260-6.
King MA, Stone JA, Diaz PT, Mueller CF, Becker WJ, Gadek JE. Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology 1996;199:137-41.
Parr DG, Guest PG, Reynolds JH, Dowson LJ, Stockley RA. Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2007;176:1215-21.
Cuvelier A, Muir JF, Hellot MF, et al. Distribution of alpha(1)- antitrypsin alleles in patients with bronchiectasis. Chest 2000;117:415-9.
Shin MS, Ho KJ. Bronchiectasis in patients with alpha 1-antitrypsin deficiency. A rare occurrence? Chest 1993;104:1384-6.
Williams H, Campbell P. Generalized bronchiectasis associated with deficiency of cartilage in the bronchial tree. Arch Dis Child 1960;35:182-91.
Shankar G, Kothari P, Sarda D, Kulkarni B, Kalgutkar A. Pneumonectomy in a child with congenital bronchiectasis: A case report and review of literature. Ann Thorac Med 2006;1:81-3.
Palmer SM Jr, Layish DT, Kussin PS, Oury T, Davis RD, Tapson VF. Lung Transplantation for Williams-Campbell Syndrome. Chest 1998;113;534-7.
McAdams HP, Erasmus J. Chest case of the day: WilliamsCampbell syndrome. AJR Am J Roentgenol 1995;165:190-1.
George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology 2006;11:117-9.
Mounier-Kuhn P. Dilatation de la trachee: constatations radiographiques et bronchoscopiques. [Tracheal diatation: radiography and bronchoscopy findings]. Lyon Med 1932;150:106-9.
Marques A, Filix M, Barata F, et al. Mounier-Kuhn syndrome: a rare etiology of recurrent respiratory tract infections. Rev Port Pneumol 2007;13:721-7.
Hubbard M, Masters IB, Chang AB. Rapidly progressing case of Mounier-Kuhn Syndrome in early childhood. Pediatr Pulmonol 2003;36:353-6.
Sane AC, Effmann EL, Brown SD. Tracheobronchiomegaly: the Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. Chest 1992;102:618–9.
Celenk C, Celenk P, Selçuk MB, Ozyazici B, Kuru O. Tracheomegaly in association with rheumatoid arthritis. Eur Radiol 2000;10:1792-4.
Padley S, Varma N, Flower CD. Tracheobronchomegaly in association with ankylosing spondylitis. Clin Radiol 1991;43:139-41.
Ward S, Morcos SK. Congenital bronchial atresia: presentation of three cases and a pictorial review. Clin Radiol 1999;54:144-8.
Ramsey BH, Byron FX. Mucocele, congenital bronchiectasis and bronchogenic cyst. J Thorac Surg 1953;26:21-30.
Pedicelli G, Ciarpaglini LL, De Santis M, Leonetti C. Congenital bronchial atresia (CBA): a critical review of CBA as a disease entity and presentation of a case series. Radiol Med 2005;110:544-53.
Morikawa N, Kuroda T, Honna T, et al. Congenital bronchial atresia in infants and children. J Pediatr Surg 2005;40:1822-6.
Psathakis K, Eleftheriou D, Boulas P, Mermigkis C, Tsintiris K. Congenital bronchial atresia presenting as a cavitary lesion on chest radiography: a case report. Cases J 2009;2:17.
Cooke CR. Bronchopulmonary sequestration. Respir Care 2006;51:661-4.
Stoker JT, Malczak HT. A study of pulmonary ligament arteries: relationship to intralobar sequestration. Chest 1984;86:611-5.
Petersen G, Martin U, Singhal A, Criner GJ. Intralobar sequestration in the middle-aged and elderly adult: recognition and radiographic evaluation. J Thorac Cardiovasc Surg 2003;126:2086-90.
Spartalis E, Lachanas E, Pavlopoulos D, Michail O, Karakatsani A, Tomos P. Two cases of broncho-pulmonary foregut malformations. Pneumon 2009;22:182–5.
Bolman RM, Wolfe WC. Bronchiectasis and bronchopulmonary sequestration. Surg Clin North Am 1980;60:867-81.
Samman PD, White WF. The “yellow nail” syndrome. Br J Dermatol 1964; 76:153-7.
Hoque SR, Mansour S, Mortimer PS. Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature. Br J Dermatol 2007;156:1230-4.
D’Alessandro A, Muzi G, Monaco A, Filiberto S, Barboni A, Abbritti G. Yellow nail syndrome: does protein leakage play a role? Eur Respir J 2001;17:149-52.
Maldonado F, Tazelaar HD, Wang CW, Ryu JH. Yellow nail syndrome: analysis of 41 consecutive patients. Chest 2008;134:375- 81.
Miro AM, Vasudevan V, Shah H. Ciliary motility in two patients with yellow nail syndrome and recurrent sinopulmonary infections. Am Rev Respir Dis 1990;142:890-1.
Shields MD, Bush A, Everard ML, McKenzie S, Primhak R. BTS guidelines: Recommendations for the assessment and management of cough in children. Thorax 2008;63 Suppl 3:iii1-iii15.
De Boeck K, Proesmans M, Mortelmans L, Van Billoen B, Willems T, Jorissen M. Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia. Thorax 2005;60:414-7.
Rosen MJ. Chronic cough due to bronchiectasis: ACCP evidencebased clinical practice guidelines. Chest 2006;129:122S-31S.
Morillas HN, Zariwala M, Knowles MR. Genetic causes of bronchiectasis: primary ciliary dyskinesia. Respiration 2007;74:252-63.
Li Z, Kosorok MR, Farrell PM, et al. Longitudinal development of mucoid Pseudomonas aeruginosa infection and lung disease progression in children with cystic fibrosis. JAMA 2005;293:581-8.
Shah P, Mawdsley S, Nash K, Cullinan P, Cole PJ, Wilson R. Determinants of chronic infection with Staphylococcus aureus in patients with bronchiectasis. Eur Respir J 1999;14:1340-4.
Nick JA, Rodman DM. Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med 2005;11:513-8.
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003;168:818-900.
Hartman TE, Primack SL, Lee KS, Swensen SJ, Müller NL. CT of bronchial and bronchiolar diseases. Radiographics 1994;14:991-1003.
Fortuna FP, Irion K, Wink C, Boemo JL. Mounier Kuhn syndrome. J Bras Pneumol 2006;32:180-3.
Newell JDJ, Chan ED, Martin RJ. Imaging of airway disease. In: Lynch DA, Newell JDJ, Lee JS (eds), Imaging of Diffuse Lung Disease, 1 ed, B.C. Deeker Inc, Hamilton;2000, pp 171-97.
Beigelman C, Howarth NR, Chartrand-Lefebvre C, Grenier P. Congenital anomalies of tracheobronchial branching patterns: spiral CT aspects in adults. Eur Radiol 1998;8:79-85.
Matsushima H, Takayanagi N, Satoh M, et al. Congenital bronchial atresia: radiologic findings in nine patients. J Comput Assist Tomogr 2002;26:860-4.
Mata JM, Caceres J, Lucaya J, Garcia-Conesa JA. CT of congenital malformations of the lung. RadioGraphics 1990;10:651-74.
Ahmed M,Jacobi V, Vogl TJ. Multislice CT and CT angiography for non-invasive evaluation of bronchopulmonary sequestration. Eur Radiol 2004;14:2141-3.
Deguchi E, Furukawa T,Ono S, Aoi S, Kimura O, Iwai N. Intralobar pulmonary sequestration diagnosed by MR angiography. Pediatr Surg Int 2005;21:576-7.
Berrocal T, Madrid C, Novo S, Gutiérrez J, Arjonilla A, GómezLeón N. Congenital anomalies of the tracheobronchial tree, lung, and mediastinum: embryology, radiology, and pathology. Radiographics 2004;24:e17.
Reiff DB, Wells AU, Carr DH, Cole PJ, Hansell DM. CT findings in bronchiectasis: limited value in distinguishing between idiopathic and specific types. AJR Am J Roentgenol 1995;165:261-7.
Lee PH, Carr DH, Rubens MB, Cole P, Hansell DM. Accuracy of CT in predicting the cause of bronchiectasis. Clin Radiol 1995;50:839-41.
Chang AB, Redding GJ, Everard ML. Chronic wet cough: Protracted bronchitis, chronic suppurative lung disease and bronchiectasis. Pediatr Pulmonol 2008;43:519-31.
Douros K, Alexopoulou E, Nicopoulou A, et al. Bronchoscopic and High-Resolution CT Scan Findings in Children With Chronic Wet Cough. Chest 2011;140:317-23.
Journals System - logo
Scroll to top