Niemann-Pick disease type B identified following an episode of bronchopneumonia;Maladie de Niemann-Pick de type B révélée par une atteinte bronchopulmonaire

Revue des Maladies Respiratoires

Volumn 25, Issue 7, 2008, Pages 861-866

  Herve A ^a   Marchand Adam, S ^a,c   Fabre, A ^a,c   Debray, M P ^a   Germain, D P ^b   Crestani, B ^a,c   Aubier, M ^a,c  

^a BICHAT HOSPITAL   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c INSERM   (France)

Author keywords

Foamy alveolar macrophages; Histiocytosis; Interstitial pneumonia; Lysosomal disease

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ARTICLE; BRONCHOPNEUMONIA; BRONCHUS BIOPSY; CASE REPORT; ENZYME ACTIVITY; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LUNG ALVEOLUS MACROPHAGE; LUNG LAVAGE; MALE; NIEMANN PICK DISEASE;

EID: 55049113583     PISSN: 07618425     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0761-8425(08)74353-5     Document Type: Article

References (14)

1. Minai OA, Sullivan EJ, Stoller JK: Pulmonary involvement in Niemann-Pick disease: case report and literature review. Respir Med 2000; 94: 1241-51.
2. Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM: Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology 2006; 238: 339-45.
3. Ferretti GR, Lantuejoul S, Brambilla E, Coulomb M: Case report. Pulmonary involvement in Niemann-Pick disease subtype B: CT findings. J Comput Assist Tomogr 1996; 20: 990-2.
4. Nicholson AG, Florio R, Hansell DM, Bois RM, Wells AU, Hughes P, Ramadan HK, Mackinlay CI, Brambilla E, Ferretti GR, Erichsen A, Malone M, Lantuejoul S: Pulmonary involvement by Niemann-Pick disease. A report of six cases. Histopathology 2006; 48: 596-603.
5. Long RG, Lake BD, Pettit JE, Scheuer PJ, Sherlock S: Adult Niemann-Pick disease: its relationship to the syndrome of the sea-blue histiocyte. Am J Med 1977; 62: 627-35.
6. Ikegami M, Dhami R, Schuchman EH: Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. Am J Physiol Lung Cell Mol Physiol 2003; 284: L518-25.
7. Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM: The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004; 114: e672-7.
8. Castillo SS, Levy M, Wang C, Thaikoottathil JV, Khan E, Goldkorn T: Nitric oxide-enhanced caspase-3 and acidic sphingomyelinase interaction: a novel mechanism by which airway epithelial cells escape ceramide-induced apoptosis. Exp Cell Res 2007; 313: 816-23.
9. Falco F, Bembi B, Cavazza A, Pittis MG, Zucchi L: Pulmonary involvement in an adult female affected by type B Niemann Pick disease. Sarcoidosis Vasc Diffuse Lung Dis 2005; 22: 229-33.
10. Dhami R, He X, Gordon RE, Schuchman EH: Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase - deficient mouse model of Niemann-Pick disease. Lab Invest 2001; 81: 987-99.
11. Schuchman EH, Desnick RJ: 1995. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In D. Valle, editor. The metabolic and molecular bases of inherited disease. Mc Graw Hill, new york. 2601-23.
12. Guillemot N, Troadec C, de Villemeur TB, Clement A, Fauroux B: Lung disease in niemann-pick disease. Pediatr Pulmonol 2007; 42: 1207-14.
13. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 2002; 71: 1413-9.
14. Schuchman EH, Miranda SR: Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test 1997; 1: 13-9.