IMIGLUCERASE TREATMENT IN GAUCHER'S DISEASE
Abstract
Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzymeglucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal
destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several
types of Gaucher's disease with varying prognosis and clinical progression of disease. We
describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms
of the disorder. The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1
Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase
60 µg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenic
volumes and blood counts. Treatment with Imiglucerase resulted in a decrease in splenic size,
reduced requirements for transfusions and an improvement in cardiopulmonary symptoms.
Keywords: Gaucher; Imiglucerase
References
Charrow J, Andersson HC, Kaplan P, Kolodny E, Mistry P,
Pastores G et al. The Gaucher registry: demographics and
disease characteristics of 1698 patients with Gaucher disease.
Arch Intern Med 2000; 160:2835-43.
Gaucher disease. Current issues in diagnosis and treatment.
NIH Technology Assessment Panel on Gaucher Disease.
JAMA 1996; 275:548-53
Morales LE. Gaucher's disease: a review. Ann Pharmacother
;30:381-88.
Brady RO, Barton NW, Grabowski GA. The role of
neurogenetics in Gaucher disease. Arch Neurol
;50:1212-24.
Grabowski GA. Lysosomal storage diseases. In: Braunwald
E, Fauci AS, editors. Harrison's Principles of Internal
Medicine. 15th ed. New York, NY: McGraw-Hill; 2001. p.
-81.
Zimran A, Gelbart T, Westwood B, Grabowski GA,
Beutler G. High frequency of the Gaucher disease mutation
at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet
;49:855-59.
Grabowski G. Gaucher disease: enzymology, genetics, and
treatment. In: Harris H, Hirshchorn K, editors. Advances in
Human Genetics. New York, NY: Plenum Press; 1993. p.
-441.
Cox TM, Schofield JP. Gaucher's disease: clinical features
and natural history. Bailliere's Clinical Haematology
;10(4):657-89.
Rice E, Mifflin TE, Sakallah S, Lee RE, Sansieri CA,
Barrenger JA. Gaucher disease: study of phenotype,
molecular diagnosis and treatment. Clin Genet 1996;
(3):111-18.
Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH,
Pastores GM et al Gaucher disease: recommendations on
diagnosis, evaluation, and monitoring. Arch Intern Med
;158:1754-60.
Karem E, Elstein D, Abrahamov A, Bar Ziv Y, Hadas
Halpern I, Melzer E et al. Pulmonary function abnormalities
in type 1 Gaucher disease. Eur Respir J 1996; 9(2)340-45.
Verderese C, Graham OC, Holder-McShane C, Harnett NE,
Barton NW. Gaucher's disease: a pilot study of the
symptomatic responses to enzyme replacement therapy. J
Neurosci Nurs 1993; 25(5):296-301.
Wilcox WR. Lysosomal storage disorders: The need for
better pediatric recognition and comprehensive care. J Pediatr
; 144(5 Suppl):S3-14.
Grabowski G. Gaucher disease: Lessons from a decade of
therapy. J Pediatr 2004; 144(5Suppl):S15-9.
Charrow J, Adersson H, Kaplan P, Kolodny EH, Mistry P,
Pastrores G et al. Enzyme replacement therapy and
monitoring for children with type 1 Gaucher disease:
Consensus recommendations. J Pediatr 2004; 144(1):112-20.
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM,
Prakash,-Cheng A et al. Individualization of long term
enzyme replacement therapy for Gaucher disease. Genet Med
; 7(2):105.
Heitner R, Arndt S, Levin JB. Imiglucerase low dose therapy
for pediatric Gaucher disease: a long term cohort study. S Afr
Med J 2004; 94(8):647-51.
Elstein D, Abrahamov A, Hadas Halpern I, Zimran A.
Withdrawl of enzyme replacement therapy in Gaucher
disease. Br J Haematol 2000; 110(2):488-92.
Pastores GM, Barnett NL, Kolodny EH. An open-label,
noncomparative study of miglustat in type I Gaucher disease:
efficacy and tolerability over 24 months of treatment. Clin
Ther. 2005;27(8):1215-27.
J Ayub Med Coll Abbottabad 2007; 19(2)
Jmoudiak M, Futerman AH. Gaucher disease: pathological
mechanisms and modern management. Br J Haematol 2005;
(2):178-88.
Lonser RR, Walbridge S, Murray GJ, Ayzenberg MR,
Votmeyer AO, Aerts JM et al. Convection perfusion of
glucocerebrosidase for neuronopathic Gaucher disease. Ann
Neurol 2005;57(4): 542-48.
Dunbar CE, Kohn DB, Schiffman R, Barton NW, Nolta JA,
Esplin JA et al. Retroviral transfer of the glucocerbrosidase
gene into CD34+ cells from patients with Gaucher disease; in
vivo detection of transduced cells without myeloablation.
Hum Gene Ther 1998;9: 2629-40.
Downloads
How to Cite
Issue
Section
License
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.
