id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-000455-gq1omz6u	Griese, Matthias	Long-term follow-up and treatment of congenital alveolar proteinosis	2011-08-17		.txt	text/plain	3973	205	47	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. 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. At age 12 years (in 2009) analysis of the patient's CSF2RA gene revealed the homozygous Ser25X stop-mutation in exon 3 resulting in the almost complete absence of the GM-CSF receptor alpha chain and causing the alveolar proteinosis we observed ( Figure 6A ). Abbreviations PAP: Pulmonary alveolar proteinosis; GMCSF: granulocyte-macrophagecolony stimulating factor; GM-CSFR: GM-CSF receptor; WLL: whole lung lavage; washing of a single right or left lung.	./cache/cord-000455-gq1omz6u.txt	./txt/cord-000455-gq1omz6u.txt