title: Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
abstract: Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: P
authors.initials: P
authors.lastname: Tarugi
authors.forename: F
authors.initials: F
authors.lastname: Sicurelli
authors.forename: R
authors.initials: R
authors.lastname: Buccoliero
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: M M
authors.initials: MM
authors.lastname: De Santi
authors.forename: G
authors.initials: G
authors.lastname: Marcianò
authors.forename: C
authors.initials: C
authors.lastname: Battisti
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: S
authors.initials: S
authors.lastname: Calandra
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D018893:Bronchoalveolar Lavage; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002908:Chronic Disease; D005487:Foam Cells / Q000473:pathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008171:Lung Diseases / Q000150:complications* / Q000473:pathology / Q000628:therapy*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein