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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

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.[1]

References

  1. Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. Palmeri, S., Tarugi, P., Sicurelli, F., Buccoliero, R., Malandrini, A., De Santi, M.M., Marcianò, G., Battisti, C., Dotti, M.T., Calandra, S., Federico, A. Neurol. Sci. (2005) [Pubmed]
 
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