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Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.
- Source :
-
Lung [Lung] 2016 Aug; Vol. 194 (4), pp. 511-8. Date of Electronic Publication: 2016 May 10. - Publication Year :
- 2016
-
Abstract
- Niemann-Pick disease is a rare autosomal recessive lysosomal storage disease with three subtypes. Types A and B result from a deficiency of acid sphingomyelinase activity, associated with the accumulation of lipid-laden macrophages (so-called Niemann-Pick cells) in various tissues, especially the liver and spleen. Type A is a fatal neurodegenerative disorder of infancy. Type B Niemann-Pick disease is a less severe form with milder neurological involvement, characterized by hepatosplenomegaly, hyperlipidemia, and pulmonary involvement; most patients live into adulthood. Type C Niemann-Pick disease is a complex lipid storage disorder caused by defects in cholesterol trafficking, resulting in a clinical presentation dominated by neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick disease, but most frequently in type B. Respiratory manifestations range from a lack of symptoms to respiratory failure. Progression of respiratory disease is slow, but inexorable, due to the accumulation of Niemann-Pick cells in the alveolar septa, bronchial walls, and pleura, potentially leading to a progressively worsening restrictive pattern on pulmonary function testing. Bronchoalveolar lavage has important diagnostic value because it shows the presence of characteristic Niemann-Pick cells. Radiographic findings consist of a reticular or reticulonodular pattern and, eventually, honeycombing, involving mainly the lower lung zones. The most common changes identified by high-resolution computed tomography are ground-glass opacities, mild smooth interlobular septal thickening, and intralobular lines. The aim of this review is to describe the main clinical, imaging, and pathological aspects of Niemann-Pick disease, with a focus on pulmonary involvement.
- Subjects :
- Bone Diseases etiology
Cough etiology
Diagnosis, Differential
Dyspnea etiology
Humans
Liver Diseases etiology
Niemann-Pick Diseases therapy
Respiratory Tract Infections etiology
Gaucher Disease diagnosis
Lung Diseases diagnostic imaging
Lung Diseases etiology
Niemann-Pick Diseases complications
Niemann-Pick Diseases diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1750
- Volume :
- 194
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Lung
- Publication Type :
- Academic Journal
- Accession number :
- 27164983
- Full Text :
- https://doi.org/10.1007/s00408-016-9893-0