Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
Neurol Sci
; 26(3): 171-3, 2005 Jul.
Article
en En
| MEDLINE
| ID: mdl-16086131
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.
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Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de Niemann-Pick
/
Lavado Broncoalveolar
/
Células Espumosas
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Enfermedades Pulmonares
Límite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Año:
2005
Tipo del documento:
Article