ArticleEuropean respiratory review : an official journal of the European Respiratory Society2021
Interstitial lung disease in lysosomal storage disorders.
Article in European respiratory review : an official journal of the European Respiratory Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient.Molecular genetics and metabolism reports · 2026Article
- Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.Pediatric pulmonology · 2026Article
- Unknotting the crosstalk between COPD and neuroinflammation.Journal of neuroinflammation · 2026Review
- Article
- Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Lysosome-dependent cell death: disease implications and potential therapeutic targets.Molecular biology reports · 2025Review
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.Science (New York, N.Y.) · 2025Article
- The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series.Respiratory medicine case reports · 2025Article
- Impact of an expert-derived, quick hands-on tool on classifying pulmonary hypertension in chest computed tomography: a study on inexperienced readers using RAPID-CT-PH.La Radiologia medica · 2024Observational
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.Biomolecules · 2024Review
- The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency.Genetics in medicine open · 2024Review
- Genetic Underpinnings of Pulmonary Fibrosis: An Overview.Cardiovascular & hematological agents in medicinal chemistry · 2024Review
- Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.Molecular genetics and metabolism · 2023Review
- The world of rare interstitial lung diseases.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.Orphanet journal of rare diseases · 2022Review
- Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.Journal of clinical medicine · 2022Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal enzymes. Three LSDs are associated with lung involvement and/or interstitial lung disease (ILD): Gaucher disease (GD); Niemann-Pick disease, also known as acid sphingomyelinase deficiency (ASMD); and Fabry disease (FD). In GD and in ASMD, analysis of bronchoalveolar lavage fluid and lung biopsy can be informative, showing foamy cells. In GD, ILD is rare. Enzyme replacement therapy (ERT) has been available since 1991 and has greatly changed the natural history of GD, with pulmonary failure and death reported before the ERT era. In ASMD, ILD is frequent and is usually associated with spleen enlargement, low platelet cell count and low level of high-density lipoprotein-cholesterol. Results of ERT are promising regarding preliminary results of olipudase alfa in paediatric and adult ASMD populations. The most frequent respiratory manifestation in FD is COPD-like symptoms regardless of smoking habit and dyspnoea due to congestive heart failure. Early diagnosis of these three LSDs is crucial to prevent irreversible organ damage. Early initiation of ERT can, at least in part, prevent organ failure.
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