Contributions
Abstract: PB1847
Type: Publication Only
Background
Gaucher disease (GD) is a multisystemic disease of lysosomal storage that is caused by deficient activity of the glucocerebrosidase enzyme resulting from a recessive autosomal hereditary mutation in the β-glucocerebrosidase gene. The accumulation of glucocerebrosidase in the lysomes damages the hematological, skeletal, and nervous systems and leads to three varieties of the disease: type 1, which is non-neuropathic, and types 2 and 3, which are neuropathic. In Mexico, the process by which patients with lysosomal disease are cared for was reorganized by the Clínicas de Referencia Nacional y Grupos de Expertos en Enfermedades Lisosomales (National Reference Clinics and Expert Groups on Lysosomal Diseases [EGLDs]), who created the Guías de Práctica Clínica (Clinical Practice Guidelines) for GD
Aims
This study aimed to evaluate the results obtained for 39 patients diagnosed with type 1GD (25 women and 14 men) through the National Reference Clinics and EGLDs
Methods
The clinical case of 39 patients was analyzed and punctual mutation of the β-glucocerebrosidase gene was determined. The patients were treated with imiglucerase enzyme at 60 UI/Kg every 14 days. The enzymatic activity of the β-glucocerebrosidase and the chitotriosidase was determined. We determinate concentration of hemoglobin and platelets. The degree of hepato-, splenomegaly, bone density and skeletal pain was evaluated.
Results
Conclusion
this reorganization of patient care successfully reduced complications, improved care, and optimized the use of resources and costs of GD treatment.
Session topic: 27. Enzymopathies, membranopathies and other anemias
Keyword(s): Gaucher disease
Abstract: PB1847
Type: Publication Only
Background
Gaucher disease (GD) is a multisystemic disease of lysosomal storage that is caused by deficient activity of the glucocerebrosidase enzyme resulting from a recessive autosomal hereditary mutation in the β-glucocerebrosidase gene. The accumulation of glucocerebrosidase in the lysomes damages the hematological, skeletal, and nervous systems and leads to three varieties of the disease: type 1, which is non-neuropathic, and types 2 and 3, which are neuropathic. In Mexico, the process by which patients with lysosomal disease are cared for was reorganized by the Clínicas de Referencia Nacional y Grupos de Expertos en Enfermedades Lisosomales (National Reference Clinics and Expert Groups on Lysosomal Diseases [EGLDs]), who created the Guías de Práctica Clínica (Clinical Practice Guidelines) for GD
Aims
This study aimed to evaluate the results obtained for 39 patients diagnosed with type 1GD (25 women and 14 men) through the National Reference Clinics and EGLDs
Methods
The clinical case of 39 patients was analyzed and punctual mutation of the β-glucocerebrosidase gene was determined. The patients were treated with imiglucerase enzyme at 60 UI/Kg every 14 days. The enzymatic activity of the β-glucocerebrosidase and the chitotriosidase was determined. We determinate concentration of hemoglobin and platelets. The degree of hepato-, splenomegaly, bone density and skeletal pain was evaluated.
Results
Conclusion
this reorganization of patient care successfully reduced complications, improved care, and optimized the use of resources and costs of GD treatment.
Session topic: 27. Enzymopathies, membranopathies and other anemias
Keyword(s): Gaucher disease