Figures
- Figure 1
Pathways of surfactant processing. TTF1 is the transcription factor regulating SP-B and SP-C synthesis; ABCA3 is crucial for post-translational, intracellular surfactant processing; granulocyte–macrophage colony-stimulating factor (GM-CSF) regulates surfactant catabolism. The mucociliary escalator is not clinically important in surfactant clearance.
- Figure 2
a) Typical computed tomography appearances of PAP in a teenage girl. There is septal thickening outlining the secondary pulmonary lobules on a ground-glass background, giving the typical cobblestoning appearance. The underlying diagnosis was autoimmune PAP. b) Same child after whole-lung lavage(Cliff Morgan, Royal Brompton Hospital, London, UK). There is extensive clearing of the alveolar filling.
- Figure 3
Whole-lung lavage in a 2-year old girl with PAP due to a homozygous CSR2RB mutation. a) Chest radiograph prior to lavage. There is diffuse, bilateral nonspecific shadowing. The appearances are not specific for PAP. b) Three-dimensional model of trachea with two endotracheal tubes in situ. The model, printed from HRCT images, allows pre-procedure planning of ventilation, bronchial blocker and lavage strategy in patients in whom a double-lumen tube cannot be passed. c) Schematic diagram of the semiautomated circuit used for whole-lung lavage in smaller patients. d) Bronchoscopic view of the bronchial blocker in the left main bronchus, prior to instilling lavage fluid into the left lung. e) Whole-lung lavage. The bronchoscopist is carefully checking the position of the bronchial blocker, while a second operator is, in this case, using a syringe to perform the lavage. Note the creamy-coloured fluid in the aspirating syringe, typical of PAP. f) Serial aliquots of lavage fluid. Note that as the lavage has proceeded, the fluid becomes clearer. g) Chest radiograph following right sided lung lavage in the same child as in part a. There is substantial clearing of the changes in the right middle and lower lobes; the right upper lobe could not be lavaged because it was impossible to obtain a stable occlusion position in the right main bronchus and the bronchial blocker was placed in the right bronchus intermedius.
Tables
- Table 1
Proposed classification of paediatric PAP
Category of disease Exemplar conditions Disorders of surfactant protein metabolism SFTPB, STFPC, ABCA3 and TTF1 mutations GM-CSF receptor gene mutations α- and β-chain mutations Other genetic disorders MARS, STING, COPA and GATA2 mutations Metabolic disease Lysinuric protein intolerance, Niemann–Pick disease Associated with immune deficiency Congenital SCID, ADA deficiency Acquired HIV, leukaemia Associated with connective tissue disease Idiopathic juvenile chronic arthritis Miscellaneous Congenital heart disease Diseases seen in adults Exclusively in adults Macrophage blockade, lymphoma Mainly in adults Autoimmune GM-CSF: granulocyte–macrophage colony-stimulating factor; STFPB: surfactant protein B; STFPC: surfactant protein C; ABCA3: ATP-binding cassette 3; TTF1: thyroid transcription factor 1; MARS: methionyl transfer RNA synthetase; STING: stimulator of interferon; COPA: non-clathrin-coated vesicular coat protein A; GATA2: GATA-binding protein 2; SCID: severe combined immunodeficiency; ADA: adenosine deaminase.
