Congenital respiratory disorders

The incidence of congenital disorders of the respiratory tract is low and their effects are particularly seen during the first year of life. Congenital disorders can be subdivided into abnormalities of the thorax, specifically the diaphragm (hernia of the diaphragm), the lung (lung sequestration, cystic adenomatoid malformation, bronchogenic cyst, foregut cyst), the blood supply (aberrant vascularisation, double arch of the aorta), the airways (tracheal rings, tracheomalacia, tracheal atresia) and the larynx and oral cavity. Investigation and management of these diseases is usually organised in specialised centres.

Primary ciliary dyskinesia is an inherited disorder characterised by specific ultrastructural defects of cilia that are associated with impaired ciliary motion and mucociliary clearance. It results in ineffective clearance of mucous secretions  and inhaled particles, including bacteria. The disease is characterised by recurrent or persistent rhinitis, sinusitis, otitis media and bronchitis. The predominant pulmonary complication is bronchiectasis (see chapter 15). The incidence of the disease is low and often the diagnosis is difficult to assess. Therefore, both diagnosis and treatment should be organised in experienced centres.

In general, children with congenital respiratory disorders should be admitted to a specialised centre at an early stage as prompt assessment and, if necessary, treatment, are often important in determining survival.

See the entire Paediatric respiratory diseases Chapter