ArticleEuropean journal of case reports in internal medicine2021
Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease.
Article in European journal of case reports in internal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Research progress on the mechanisms of cGAS-STING signaling in immune cell infiltration associated with vascular remodeling.Journal of translational medicine · 2025Review
- Atypical case of neonatal-onset Gaucher disease type 3b: A case report.Molecular genetics and metabolism reports · 2025Article
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT. LEARNING POINTS: Type 1 Gaucher disease (GD) is the most common type of GD diagnosed in adulthood, and is characterized by great clinical heterogeneity.Pulmonary involvement is rare, mostly characterized by infiltrative lung disease and pulmonary hypertension, and typically unresponsive to enzyme replacement therapy (ERT).Type 1 GD should be included in the differential diagnosis of infiltrative lung disease of unclear origin in patients with cytopenia and/or splenomegaly.Infiltrative lung disease due to type 1 GD may respond to ERT even in elderly patients.
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