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 1642M 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.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage / S., Palmeri; Tarugi, Patrizia Maria; F., Sicurelli; R., Buccoliero; A., Malandrini; MM De, Santi; G., Marciano; C., Battisti; Mt, Dotti; CALANDRA BUONAURA, Sebastiano; A., Federico. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - STAMPA. - 26:(2005), pp. 171-173. [10.1007/s10072-005-0456-z]

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

TARUGI, Patrizia Maria;CALANDRA BUONAURA, Sebastiano;
2005

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 1642M 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.
2005
26
171
173
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage / S., Palmeri; Tarugi, Patrizia Maria; F., Sicurelli; R., Buccoliero; A., Malandrini; MM De, Santi; G., Marciano; C., Battisti; Mt, Dotti; CALANDRA BUONAURA, Sebastiano; A., Federico. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - STAMPA. - 26:(2005), pp. 171-173. [10.1007/s10072-005-0456-z]
S., Palmeri; Tarugi, Patrizia Maria; F., Sicurelli; R., Buccoliero; A., Malandrini; MM De, Santi; G., Marciano; C., Battisti; Mt, Dotti; CALANDRA BUONAURA, Sebastiano; A., Federico
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/305820
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 21
  • ???jsp.display-item.citation.isi??? 23
social impact