Original contributionPulmonary pathology in Gaucher's disease
References (12)
- et al.
Unusual cardiac, renal and pulmonary involvement in Gaucher's disease: Interstitial glucocerebroside accumulation, pulmonary hypertension, and fatal bone marrow embolism
Am J Med
(1978) - et al.
Constrictive pericarditis in Gaucher's disease
Am J Med
(1968) - et al.
Severe pulmonary involvement in adult Gaucher's disease
Am J Med
(1977) - et al.
Gaucher disease: Clinical, laboratory, radiologic and genetic features of 53 patients
Medicine
(1992) Gaucher disease
N Engl J Med
(1991)- et al.
Pulmonary function abnormalities in type I Gaucher disease
Eur Respir J
(1996)
Cited by (74)
Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children
2021, Pediatric Clinics of North AmericaAllogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
2020, Molecular Genetics and Metabolism ReportsCitation Excerpt :Results of a 10-year follow-up in non-splenectomized patients were also significant: increase in hemoglobin levels and platelet count, decrease in liver and spleen volumes, improvement in DXA Z-scores, and reduction in bone crises [3]. Pulmonary involvement in Gaucher disease (GD) includes interstitial lung disease, alveolar/lobar consolidation, pulmonary hypertension, and hepatopulmonary syndrome [4]. It is less common than visceral, hematologic, and bone manifestations.
Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options
2019, Paediatric Respiratory ReviewsLessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease
2019, Respiratory Medicine Case ReportsCitation Excerpt :The impact of long-term ERT on the presence of Gaucher cells in the lungs is unclear, although this treatment may explain the absence of these cells in the explants from our patient. Other proposed mechanisms of PH include plugging of pulmonary capillaries with bone marrow emboli [7,8], post-splenectomy PH [5], and PH via the hepatopulmonary syndrome in patients with GD1-associated liver disease [6]. Analysis of BMPR2 and ALK1 coding regions did not disclose a role for these modifier genes in GD1 [6].
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy
2018, Blood Cells, Molecules, and DiseasesCitation Excerpt :Furthermore, a significant fibrous thickening of the visceral pleura, interstitial inflammatory cell infiltration, and fibrosis were seen. Previous reports of pathological findings in the lungs of neuronopathic Gaucher disease [13–15] and the present case are shown in Table 3. The accumulation of GC in capillary was less with ERT than without ERT, but Gaucher cells were present in the alveolar space even with ERT.
Gaucher disease: A diagnostic challenge for internists
2014, European Journal of Internal Medicine