Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease

Advances in Medical Sciences

Volumn 57, Issue 1, 2012, Pages 169-173

  MacHaczka, M ^a   Klimkowska, M ^a   Hagglund H ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Gaucher disease; Inflammation; Leukocytoclastic vasculitis; Miglustat

Indexed keywords

ADENINE; ANTIBIOTIC AGENT; CORTICOSTEROID; CYTOSINE; GUANINE; IMIGLUCERASE; M PROTEIN; MELPHALAN; MIGLUSTAT; PREDNISONE; THYMINE;

AGED; ANEMIA; ARTICLE; BONE MARROW EXAMINATION; CASE REPORT; DISEASE COURSE; DRUG WITHDRAWAL; DYSERYTHROPOIESIS; ENZYME REPLACEMENT; ERYTHEMA; GAUCHER DISEASE; GBA1 GENE; GENE; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN TISSUE; LEUKOCYTOCLASTIC VASCULITIS; MALE; MONOCLONAL IMMUNOGLOBULINEMIA; MYELOMA; PERIPHERAL NEUROPATHY; SKIN BIOPSY; SKIN DEFECT; SKIN DISEASE; SKIN ULCER; SPLENECTOMY; SPLENOMEGALY; SWEDEN; SYSTEMIC VASCULITIS; THROMBOCYTOPENIA;

EID: 84865175260     PISSN: 18961126     EISSN: 18984002     Source Type: Journal    
DOI: 10.2478/v10039-012-0021-y     Document Type: Article

References (22)

1. Hruska KS, LaMarca ME, Scott CR, Sidransky E.Gaucher disease: mutation and polymorphism spectrumin the glucocerebrosidase gene (GBA). Hum Mutat. 2008May;29(5):567-83
2. Grabowski GA. Phenotype, diagnosis, and treatment ofGaucher's disease. Lancet. 2008 Oct;372(9645):1263-71
3. Mehta A. Epidemiology and natural history of Gaucher'sdisease. Eur J Intern Med. 2006 Nov;17 Suppl:S2-5
4. Machaczka M, Hast R, Dahlman I, Lerner R,Klimkowska M, Engvall M, Hägglund H. Substrate reductiontherapy with miglustat for type 1 Gaucher disease: Aretrospective analysis from a single institution. Ups J Med Sci.2012 Mar;117(1):28-34
5. Koutkia P, Mylonakis E, Rounds S, Erickson A.Leucocytoclastic vasculitis: An update for the clinician. ScandJ Rheumatol. 2001;30(6):315-22
6. Das M, Chhabra R, Hinton SW. Cutaneousleukocytoclastic vasculitis and myelodysplastic syndrome with little or no evidence of associated autoimmune disorders - A case report and a brief review of the literature. Am J MedSci. 2008 Oct;336(4):368-71
7. Machaczka M, Lerner R, Klimkowska M, HägglundH. Treatment of multiple myeloma in patients with Gaucher disease. Am J Hematol. 2009 Oct;84(10):694-6
8. Goldblatt J, Beighton P. Cutaneous manifestations ofGaucher disease. Br J Dermatol. 1984 Sep;111(3):331-4
9. Cox TM, Schofield JP. Gaucher's disease: clinicalfeatures and natural history. Baillieres Clin Haematol. 1997 Dec;10(4):657-89
10. Holleran WM, Ziegler SG, Goker-Alpan O, Eblan MJ,Elias PM, Schiffmann R, Sidransky E. Skin abnormalities asan early predictor of neurologic outcome in Gaucher disease.Clin Genet. 2006 Apr;69(4):355-7
11. Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipidbiosynthesis. J Biol Chem. 1994 Mar;269(11):8362-5
12. Pollock S, Dwek RA, Burton DR, Zitzmann N.N-Butyldeoxynojirimycin is a broadly effective anti-HIVtherapy significantly enhanced by targeted liposome delivery.AIDS. 2008 Oct 1;22(15):1961-9
13. Block TM, Lu X, Platt FM, Foster GR, Gerlich WH,Blumberg BS, Dwek RA. Secretion of human hepatitis B virusis inhibited by the imino sugar N-butyldeoxynojirimycin. ProcNatl Acad Sci U S A. 1994 Mar 15;91(6):2235-9
14. Fischer PB, Collin M, Karlsson GB, James W,Butters TD, Davis SJ, Gordon S, Dwek RA, Platt FM. Thealpha-glucosidase inhibitor N-butyldeoxynojirimycin inhibits human immunodeficiency virus entry at the level of post-CD4 binding. J Virol. 1995 Sep;69(9):5791-7
15. Jordan R, Nikolaeva OV, Wang L, Conyers B, Mehta A, Dwek RA, Block TM. Inhibition of host ER glucosidase activity prevents Golgi processing of virion-associated bovine viral diarrhea virus E2 glycoproteins and reduces infectivity of secreted virions. Virology. 2002 Mar;295(1):10-9
16. Wu SF, Lee CJ, Liao CL, Dwek RA, Zitzmann N, Lin YL. Antiviral effects of an iminosugar derivative on flavivirus infections. J Virol. 2002 Apr;76(8):3596-604
17. Tanaka Y, Kato J, Kohara M, Galinski MS. Antiviral effects of glycosylation and glucose trimming inhibitorson human parainfluenza virus type 3. Antiviral Res. 2006Oct;72(1):1-9
18. Chapel C, Garcia C, Bartosch B, Roingeard P, ZitzmannN, Cosset FL, Dubuisson J, Dwek RA, Trépo C, Zoulim F, Durantel D. Reduction of the infectivity of hepatitis C viruspseudoparticles by incorporation of misfolded glycoproteinsinduced by glucosidase inhibitors. J Gen Virol. 2007 Apr;88(Pt4):1133-43
19. Tierney M, Pottage J, Kessler H, Fischl M, Richman D, Merigan T, Powderly W, Smith S, Karim A, Sherman J,Hirsch M. The tolerability and pharmacokinetics of N-butyldeoxynojirimycinin patients with advanced HIV disease(ACTG 100). The AIDS Clinical Trials Group (ACTG) ofthe National Institute of Allergy and Infectious Diseases.J Acquir Immune Defic Syndr Hum Retrovirol. 1995 Dec15;10(5):549-53
20. Zimran A, Elstein D. Gaucher disease and the clinicalexperience with substrate reduction therapy. Philos Trans RSoc Lond B Biol Sci. 2003 May;358(1433):961-6
21. Dechecchi MC, Nicolis E, Norez C, Bezzerri V, BorgattiM, Mancini I, Rizzotti P, Ribeiro CM, Gambari R, Becq F,Cabrini G. Anti-inflammatory effect of miglustat in bronchialepithelial cells. J Cyst Fibros. 2008 Nov;7(6):555-65
22. Dechecchi MC, Nicolis E, Mazzi P, Cioffi F, BezzerriV, Lampronti I, Huang S, Wiszniewski L, Gambari R, ScupoliMT, Berton G, Cabrini G. Modulators of sphingolipidmetabolism reduce lung inflammation. Am J Respir Cell MolBiol. 2011 Oct;45(4):825-33