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Gaucher cells

MedGen UID:
1052574
•Concept ID:
CN378039
•
Finding
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

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
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
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 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

Therapy

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.
Kilic A, Emecen Sanli M, Ozsaydı Aktasoglu E, Gokalp S, Biberoğlu G, Inci A, Okur I, Suheyl Ezgu F, Tumer L
J Pediatr Endocrinol Metab 2024 May 27;37(5):413-418. Epub 2024 Apr 17 doi: 10.1515/jpem-2023-0504. PMID: 38624096
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
Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated Liver Cirrhosis and Portal Hypertension: A Case Report.
Zhang P, Zheng MF, Cui SY, Zhang W, Gao RP
Endocr Metab Immune Disord Drug Targets 2022;22(6):658-662. doi: 10.2174/1871530321666211119145230. PMID: 34802413
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
Therapeutic approaches to bone pathology in Gaucher disease: past, present and future.
Goker-Alpan O
Mol Genet Metab 2011 Dec;104(4):438-47. Epub 2011 Aug 11 doi: 10.1016/j.ymgme.2011.08.004. PMID: 21889384

Prognosis

Histologically atypical case of Gaucher disease type 1.
Sabljak J, Heath O, Halligan R, Cheng DR
BMJ Case Rep 2023 Sep 29;16(9) doi: 10.1136/bcr-2023-256368. PMID: 37775277Free 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
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: 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
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Cox TM
J Inherit Metab Dis 2001;24 Suppl 2:106-21; discussion 87-8. doi: 10.1023/a:1012496514170. PMID: 11758671

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 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
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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