ArticleEuropean journal of pediatrics2018
Pulmonary involvement in Niemann-Pick C type 1.
Article in European journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.Human gene therapy · 2025Article
- Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease.Annals of the American Thoracic Society · 2024Article
- The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.Biomolecules · 2024Review
- Potential Composite Digenic Contribution ofGenes · 2022Article
- Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.Children (Basel, Switzerland) · 2022Article
- iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.Experimental cell research · 2022Article
- Endolysosomal Cation Channels and Lung Disease.Cells · 2022Review
- Review
- Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.Human molecular genetics · 2021Article
- Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1.Human gene therapy · 2021Article
- [Neonatal-onset Niemann-Pick type C disease with COVID-19 infection].Anales de pediatria · 2021Article
- Understanding and Treating Niemann-Pick Type C Disease: Models Matter.International journal of molecular sciences · 2020Review
- Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.International journal of molecular sciences · 2020Review
- Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease.Journal of lipid research · 2020Article
- Ontogenesis and Modulation of Intestinal Unesterified Cholesterol Sequestration in a Mouse Model of Niemann-Pick C1 Disease.Digestive diseases and sciences · 2020Article
- NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.Journal of clinical medicine · 2019Article
- Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.Orphanet journal of rare diseases · 2019Article
- Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.International journal of molecular sciences · 2019Review
- Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2. We describe a series of 12 patients, originating from six families all homozygotes to the p.R404Q (c.1211G > A) mutation of NPC1 gene; nine of them had significant pulmonary manifestations. All patients were followed in our medical center. Nine of the patients had pulmonary involvement, with recurrent pneumonia as the first manifestation in most, followed by recurrent wheezing episodes and subsequent development of interstitial lung disease with chronic need for oxygen support. Seven patients were reported of having interstitial disease by various imaging modalities.Conclusion: Pulmonary involvement in NPC1 is more common than previously reported. It is characterized as primary obstructive and restrictive lung disease and not only as part of neurologic sequel of NPC. It can lead to respiratory insufficiency and death from respiratory failure. What is Known: • Lung involvement has been described in only few patients with NPC. • Most reported NPC cases with pulmonary involvement were of NPC2. What is New: • Pulmonary involvement in NPC1 is more common than previously reported. • Pulmonary involvement in NPC1 should be considered as part of the disease and be thoroughly assessed and managed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.