Lung Involvement in Gaucher Disease
Abstract
Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Case Presentation: A 30-year-old man and known case of Gaucher Disease presented to our clinic with history of progressive dyspnea since 8 months ago. Pulmonary function test showed restrictive pattern. Chest CT scan revealed diffuse bilateral interlobular septal thickening and small interstitial nodules with ground glass opacities in lower lobes.
Conclusion: Patients with Gaucher Disease that present with progressive dyspnea may have a manifestation of interstitial or alveolar lung disease.
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[2] Mehta S. Severe pulmonary involvement with cor pulmonale; the initial presenting feature of non-neuronopathic form of Gaucher’s disease. Journal of Pediatric Sciences. 2015; 7:e245. [DOI:10.17334/jps.45559]
[3] Sherwani P, Vire A, Anand R, Gupta R. Lung lysed: A case of Gaucher disease with pulmonary involvement. Lung India. 2016; 33(1):108-10. [DOI:10.4103/0970-2113.173086] [PMID] [PMCID]
[4] Ceyhan M, Celik F, Elmali M, Gurmen N. An unusual form of Gaucher’s disease: Pulmonary and cardiovascular involvement and cholelitiasis. Central European Journal of Medicine. 2010; 5(4):495- 8. [DOI:10.2478/s11536-009-00621]
[5] Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clinical Cases in Mineral and Bone Metabolism. 2015; 12(2):157-64. [DOI:10.11138/ccmbm/2015.12.2.157] [PMID] [PMCID]
| Files | ||
| Issue | Vol 4 No 4 (2019): Autumn | |
| Section | Clinical Image(s) | |
| DOI | https://doi.org/10.18502/crcp.v4i4.2391 | |
| Keywords | ||
| Gaucher disease Shortness of breath Pulmonary disease | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Pejman Sani M, Gohari Moghadam K, Ebrahimpur M. Lung Involvement in Gaucher Disease. CRCP. 2020;4(4):125-127.
