About: Long-term follow-up and treatment of congenital alveolar proteinosis

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Long-term follow-up and treatment of congenital alveolar proteinosis
Creator	Schaub, Bianca Griese, Matthias Reiter, Karl Nicolai, Thomas Brasch, Frank Glöckner-Pagel, Judith Hector, Andreas Lohse, Peter Lohse, Pia Muensterer, Oliver Pamir, Asli Ripper, Jan Schams, Andrea Schön, Carola Sibbersen, Anke
Source	PMC
abstract	BACKGROUND: Clinical presentation, diagnosis, management and outcome of molecularly defined congenital pulmonary alveolar proteinosis (PAP) due to mutations in the GM-CSF receptor are not well known. CASE PRESENTATION: A 2 1/2 years old girl was diagnosed as having alveolar proteinosis. Whole lung lavages were performed with a new catheter balloon technique, feasible in small sized airways. Because of some interstitial inflammation in the lung biopsy and to further improve the condition, empirical therapy with systemic steroids and azathioprin, and inhaled and subcutaneous GMCSF, were used. Based on clinical measures, total protein and lipid recovered by whole lung lavages, all these treatments were without benefit. Conversely, severe respiratory viral infections and an invasive aspergillosis with aspergilloma formation occurred. Recently the novel homozygous stop mutation p.Ser25X of the GMCSF receptor alpha chain was identified in the patient. This mutation leads to a lack of functional GMCSF receptor and a reduced response to GMCSF stimulation of CD11b expression of mononuclear cells of the patient. Subsequently a very intense treatment with monthly lavages was initiated, resulting for the first time in complete resolution of partial respiratory insufficiency and a significant improvement of the overall somato-psychosocial condition of the child. CONCLUSIONS: The long term management from early childhood into young adolescence of severe alveolar proteinosis due to GMCSF receptor deficiency requires a dedicated specialized team to perform technically demanding whole lung lavages and cope with complications.
has issue date	2011-08-17(xsd:dateTime)
bibo:doi	10.1186/1471-2431-11-72
bibo:pmid	21849033
has license	cc-by
sha1sum (hex)	8be183b59a7ccf2598c301d4c465f559d11ad80a
schema:url	https://doi.org/10.1186/1471-2431-11-72
resource representing a document's title	Long-term follow-up and treatment of congenital alveolar proteinosis
has PubMed Central identifier	PMC3175167
has PubMed identifier	21849033
schema:publication	BMC Pediatr
resource representing a document's body	covid:8be183b59a7ccf2598c301d4c465f559d11ad80a#body_text
is schema:about of	named entity 'Clinical presentation' named entity 'GM-CSF receptor' named entity 'Long-term' named entity 'alveolar proteinosis' named entity 'congenital' named entity 'alveolar proteinosis' named entity '3 living' named entity 'alveolar proteinosis' named entity 'Pneumocystis' named entity 'lung lavage' named entity 'alveolar proteinosis' named entity 'neutrophils' named entity 'receptor' named entity 'recombinant' named entity 'respiratory insufficiency' named entity 'protein' named entity 'nutrition' named entity '1, 2' named entity 'immunosuppression' named entity 'surgical resection' named entity 'alveolar macrophages' named entity 'growth failure' named entity 'GM-CSF receptor' named entity 'rare diseases' named entity 'signal transduction' named entity 'x400' named entity 'GM-CSF receptor' named entity 'cytospin' named entity 'Lactate dehydrogenase' named entity 'rare condition' named entity 'lavage' named entity 'WLL' named entity 'syringe' named entity 'ARDS' named entity 'GM-CSF' named entity 'histology' named entity 'Macroscopic' named entity 'endotracheal tube' named entity 'PAP' named entity 'PAP' named entity 'protein' named entity 'auto-immune' named entity 'congenital' named entity 'infection' named entity 'IgG1' named entity 'alveolar' named entity 'congenital' named entity 'CD11b' named entity 'total protein' named entity 'long term' named entity 'congenital' named entity 'CD11b' named entity 'subcutaneously' named entity 'GM-CSF receptor' named entity 'CD11b' named entity 'microscopy' named entity 'WLL' named entity 'total protein' named entity 'Niemann Pick disease' named entity 'GM-CSF' named entity 'left lung' named entity 'age 12' named entity 'WLL' named entity 'body temperature' named entity 'CD11b' named entity 'GM-CSF' named entity 'left lung'

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