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Gaucher cells

MedGen UID:
1863732
•Concept ID:
C5889745
•
Cell or Molecular Dysfunction
HPO: HP:6000893

Definition

Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGaucher cells

Professional guidelines

PubMed

Management of women with Gaucher disease in the reproductive age.
Rosenbaum H
Thromb Res 2015 Feb;135 Suppl 1:S49-51. Epub 2015 Feb 9 doi: 10.1016/S0049-3848(15)50443-X. PMID: 25903536
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases.
Cox TM
Curr Opin Investig Drugs 2010 Oct;11(10):1169-81. PMID: 20872320
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.
Vom Dahl S, Poll L, Di Rocco M, Ciana G, Denes C, Mariani G, Maas M
Curr Med Res Opin 2006 Jun;22(6):1045-64. doi: 10.1185/030079906X104623. PMID: 16846538

Recent clinical studies

Etiology

Gaucher: A Systematic Review on Oral and Radiological Aspects.
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.
Cox TM, Rosenbloom BE, Barker RA
Am J Hematol 2015 Jul;90 Suppl 1:S25-8. doi: 10.1002/ajh.24057. PMID: 26096744
Management of women with Gaucher disease in the reproductive age.
Rosenbaum H
Thromb Res 2015 Feb;135 Suppl 1:S49-51. Epub 2015 Feb 9 doi: 10.1016/S0049-3848(15)50443-X. PMID: 25903536
Hypercoagulability, parkinsonism, and Gaucher disease.
Rosenbaum H, Aharon-Peretz J, Brenner B
Semin Thromb Hemost 2013 Nov;39(8):928-34. Epub 2013 Oct 15 doi: 10.1055/s-0033-1357485. PMID: 24129683

Diagnosis

Pseudo-Gaucher cells in a myeloid neoplasm with PDGFRB rearrangement: imitating the imitator.
Cho-Vega JH, Loghavi S
Blood 2022 Aug 11;140(6):664. doi: 10.1182/blood.2022016602. PMID: 35951342
Abundant pseudo-Gaucher cells result in delay in diagnosis of plasma cell myeloma.
Beaton B, Ramaswami U, Hughes DA, Proctor I, Mehta A
Br J Haematol 2018 Aug;182(4):465. Epub 2018 May 9 doi: 10.1111/bjh.15257. PMID: 29741764
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393
Waldenström macroglobulinemia with pseudo-Gaucher cells.
Ash Image Bank
Blood 2010 Nov 4;116(18):3388. doi: 10.1182/blood-2009-12-258574. PMID: 21089228

Therapy

Advancements in Viral Gene Therapy for Gaucher Disease.
Kulkarni A, Chen T, Sidransky E, Han TU
Genes (Basel) 2024 Mar 15;15(3) doi: 10.3390/genes15030364. PMID: 38540423Free PMC Article
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.
van Dussen L, Zimran A, Akkerman EM, Aerts JM, Petakov M, Elstein D, Rosenbaum H, Aviezer D, Brill-Almon E, Chertkoff R, Maas M, Hollak CE
Blood Cells Mol Dis 2013 Mar;50(3):206-11. Epub 2012 Nov 28 doi: 10.1016/j.bcmd.2012.11.001. PMID: 23199589
Pseudo-Gaucher cells in disseminated mycobacterial infection.
Busarla SV, Sadruddin FA, Sohani AR
Am J Hematol 2013 Feb;88(2):155. Epub 2012 Feb 3 doi: 10.1002/ajh.22269. PMID: 22307983
Pseudo-Gaucher cells in multiple myeloma.
Shenjere P, Roy A, Eyden B, Banerjee SS
Int J Surg Pathol 2008 Apr;16(2):176-9. doi: 10.1177/1066896907311120. PMID: 18417675

Prognosis

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Hypercoagulability, parkinsonism, and Gaucher disease.
Rosenbaum H, Aharon-Peretz J, Brenner B
Semin Thromb Hemost 2013 Nov;39(8):928-34. Epub 2013 Oct 15 doi: 10.1055/s-0033-1357485. PMID: 24129683
Pseudo-Gaucher cells in disseminated mycobacterial infection.
Busarla SV, Sadruddin FA, Sohani AR
Am J Hematol 2013 Feb;88(2):155. Epub 2012 Feb 3 doi: 10.1002/ajh.22269. PMID: 22307983
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
Hoffmann B, Schwahn B, Knobbe CB, Vogel M, Blohm M, Mayatepek E, Wendel U
Neuropediatrics 2006 Jun;37(3):163-5. doi: 10.1055/s-2006-924556. PMID: 16967369
Gaucher disease: pediatric concerns.
Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A
Paediatr Drugs 2002;4(7):417-26. doi: 10.2165/00128072-200204070-00001. PMID: 12083970

Clinical prediction guides

ACE phenotyping in Gaucher disease.
Danilov SM, Tikhomirova VE, Metzger R, Naperova IA, Bukina TM, Goker-Alpan O, Tayebi N, Gayfullin NM, Schwartz DE, Samokhodskaya LM, Kost OA, Sidransky E
Mol Genet Metab 2018 Apr;123(4):501-510. Epub 2018 Feb 17 doi: 10.1016/j.ymgme.2018.02.007. PMID: 29478818Free PMC Article
Hypercoagulability, parkinsonism, and Gaucher disease.
Rosenbaum H, Aharon-Peretz J, Brenner B
Semin Thromb Hemost 2013 Nov;39(8):928-34. Epub 2013 Oct 15 doi: 10.1055/s-0033-1357485. PMID: 24129683
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393
Gaucher's Disease. Pathological features.
Pastores GM
Baillieres Clin Haematol 1997 Dec;10(4):739-49. doi: 10.1016/s0950-3536(97)80037-6. PMID: 9497861
Angulate lysosomes.
Dingemans KP, Mooi WJ, van den Bergh Weerman MA
Ultrastruct Pathol 1983 Sep-Oct;5(2-3):113-22. doi: 10.3109/01913128309141830. PMID: 6199876

Recent systematic reviews

Gaucher: A Systematic Review on Oral and Radiological Aspects.
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article

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