Revista de Hematología

Contents by Year, Volume and Issue

Table of Contents

General Information

Instructions for Authors

Message to Editor

Editorial Board

>Journals >Revista de Hematología >Year 2016, Issue 1

Herrera-Olivares W, Castelan-Cruz O
Gaucher’s disease: A report of a new mutation
Rev Hematol Mex 2016; 17 (1)

Language: Español
References: 12
Page: 67-71
PDF: 309.15 Kb.

Full text


Gaucher’s disease is the most common of lysosomal storage disorders. Autosomal recessive inheritance of a defective gene results in a deficiency of the lysosomal hydrolase cerebrosidase, which causes an abnormal accumulation of lipid glucocerebroside within cells, especially macrophages. We report the case of a 62-year-old female patient with clinical manifestations caused by splenomegaly and secondary cytopenias since adolescence, after complementary tests we concluded Gaucher’s disease, and gene sequencing showed a mutation in glucocerebrosidase gene not previously reported.

Key words: Gaucher’s disease, splenomegaly, novel mutation.


  1. Pramod K. Understanding the natural history of Gaucher disease. Am J Hematol 2015;90:S6-S11.

  2. Weinreb N. Pathophysiology, Clinical Features, and Natural History of Gaucher Disease. Clin Adv Hematol Oncol 2012;10:3-9.

  3. Giraldo P. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis 2012;7:17.

  4. Mandlebaum F. A contribution to the pathology of primary splenomegaly (Gaucher type), with the report of an autopsy on a male child four and one half years of age. J Exp Med 1912;16:797-821.

  5. Grabowski G. Gaucher disease and other storage disorders. Hematology 2012;13-17.

  6. Zimran A. How I treat Gaucher disease. Blood 2011;118:1463-1471.

  7. Weinreb N, et al. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Diseases 2015;10:64.

  8. Harmanci O, Bayraktar Y. Gaucher disease: New developments in treatment and etiology. World J Gastroenterol 2008;14:3968-3973.

  9. Cox TM, et al. Gaucher disease and comorbidities: B-cell malignancy and parkinsonism. Am J Hematol 2015:90:S25- S28.

  10. Lo Iudice F, et al. Left ventricular diastolic dysfunction in type I Gaucher disease: An echo doppler study. Echocardiography 2015;32:890-895.

  11. Charrow J, Scott CR. Long-term treatment outcomes in Gaucher disease. Am J Hematol 2015; 90:S19-S24.

  12. Mistry P, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1. JAMA 2015;313:695- 706.

>Journals >Revista de Hematología >Year 2016, Issue 1

· Journal Index 
· Links 

Copyright 2019