Pompa-Garza MT, González-Villarreal MG, Cedillo-de la Cerda JL

Language: Spanish
References: 5
Page: 653-656
PDF size: 52.64 Kb.

ABSTRACT

Among lysosomal storage diseases, Gaucher disease depicts the highest rate of incidence, according with the international epidemiological reports. Gaucher disease is due to an impairing of the acid beta-glucosidase enzyme, since its lack promotes accumulation of the sphingolipid glucosylceramide at macrophages, leading to heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation). This paper portrays a series of clinical cases of Gaucher disease with patients treated at the same city (Monterrey, Nuevo León), at the Paediatric Haematology Department of the Specialties General Hospital, UMAE 25, in Monterrey of the Instituto Mexicano del Seguro Social. Gaucher disease is symptomatic since early childhood in a good proportion of patients. The patients in this serie was treated with enzyme replacement therapy, and share the typical overall features of the disease.

REFERENCES

1. Franco-Ornelas S; Grupo de Expertos en Enfermedad de Gaucher. Consenso Mexicano de Enfermedad de Gaucher. Rev Med Inst Mex Seguro Soc 2010;48(2):167-186.

2. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 2005;129(2):178-188.

3. Charrow J, Anderson H, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 2004;144(1):112-205.

4. Beck M. Therapy for lysosomal storage disorders. IUBMB Life; 2010 ;62(1):33-40.

5. Cox TM. Recommendations for treating patients with Gaucher disease with emerging enzyme products. Blood Cell Mol Dis 2010;44(2):84-85.