title: Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.
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.
authors.affiliation: Federal University of Rio de Janeiro, Rua Thomaz Cameron, 438, Valparaiso, Petrópolis, Rio de Janeiro, CEP 25685.120, Brazil.
authors.forename: Felipe Mussi
authors.initials: FM
authors.lastname: von Ranke
authors.affiliation: Federal University of Rio de Janeiro, Rua Thomaz Cameron, 438, Valparaiso, Petrópolis, Rio de Janeiro, CEP 25685.120, Brazil.
authors.forename: Heloisa Maria
authors.initials: HM
authors.lastname: Pereira Freitas
authors.affiliation: Department of Radiology, Radiologia Anchieta - Hospital Anchieta, Taguatinga, Brazil.
authors.forename: Alexandre Dias
authors.initials: AD
authors.lastname: Mançano
authors.affiliation: Federal University of Rio de Janeiro, Rua Thomaz Cameron, 438, Valparaiso, Petrópolis, Rio de Janeiro, CEP 25685.120, Brazil.|Department of Radiology, D'Or Institute for Research and Education, Rio de Janeiro, Brazil.
authors.forename: Rosana Souza
authors.initials: RS
authors.lastname: Rodrigues
authors.affiliation: Department of Radiology, Santa Casa de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Bruno
authors.initials: B
authors.lastname: Hochhegger
authors.affiliation: Department of Radiology, Federal University of Paraná, Curitiba, Brazil.
authors.forename: Dante
authors.initials: D
authors.lastname: Escuissato
authors.affiliation: Federal University of Bahia, Salvador, Brazil.
authors.forename: Cesar Augusto
authors.initials: CA
authors.lastname: Araujo Neto
authors.affiliation: Department of Radiology, Hospital São Lucas - PUCRS, Porto Alegre, Brazil.
authors.forename: Thiago Krieger Bento
authors.initials: TK
authors.lastname: da Silva
authors.affiliation: Federal University of Rio de Janeiro, Rua Thomaz Cameron, 438, Valparaiso, Petrópolis, Rio de Janeiro, CEP 25685.120, Brazil. edmarchiori@gmail.com.
authors.forename: Edson
authors.initials: E
authors.lastname: Marchiori
mesh_terms: D001847:Bone Diseases / Q000209:etiology; D003371:Cough / Q000209:etiology; D003937:Diagnosis, Differential; D004417:Dyspnea / Q000209:etiology; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008107:Liver Diseases / Q000209:etiology; D008171:Lung Diseases / Q000000981:diagnostic imaging* / Q000209:etiology*; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D012141:Respiratory Tract Infections / Q000209:etiology
keywords: Computed tomography; Niemann–Pick disease; Pulmonary diseases