Gaucher disease in Mexico. Epidemiologic overview
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| Natura: | Artículo científico |
| Lingua: | en |
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Instituto Nacional de Pediatría
2011
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| author | Luis Carbajal-Rodriguez |
| author_facet | Luis Carbajal-Rodriguez |
| contents | Gaucher disease in Mexico. Epidemiologic overview Luis Carbajal-Rodriguez Aitana Voirol-Garcia Ignacio Mora-Magaña Raymundo Rodriguez- Herrera Jorge Zarco-Roman Medicina homocygote heterocygote Gaucher disease glucocerebrosidase lysosomal storage diseas Introduction: Gaucher disease (GD) is a rare genetic recessive autosomical lysosomal storage disease, characterized by deficient activity of glucocerebrosidase. Treatment is available, but a lack of legislation for it in Mexico limits its use. This report describes the clinical features of a Mexican sample of affected subjects.Material and Methods: Sixty-three confirmed patientsregistered in the Mexican Gaucher Association from 1983-2006 were studied. Age, sex, type, mutation, manifestations, and treatment were evaluated. There were 32 males (50.7%) and 31 females (49.3%); mean age was 21.8 years.Results: Type 1 GD affected 51 (80.9%) and type 3 affected 12 (19.1%) patients. Average age at diagnosis was 12.4 years. Thirty-seven patients were N370S heterozygotes and 6 patients were N370S homozygotes. L444P was found in 14 heterozygote patients and in 6 L444P homozygotes. No L444P homozygote was reported in patients with type 1 GD, and no N370S was observed in patients with type 3 GD. Clinical manifestations were reported in the following percentages of patients: hepatomegaly, 19.04%; hepatosplenomegaly, 80.9%; hematological disorder 58.7%; bone disorder, 100%; neurological disorder, 19.04%. Only 40 (63.4) were under enzyme replacement therapy.Discussion: This is the first complete report of patients with GD in Mexico. Rare disease and orphan drug legislation is needed in Mexico. 2011 artículo científico 0186-2391 https://www.redalyc.org/articulo.oa?id=423640331004 en http://www.redalyc.org/revista.oa?id=4236 Acta Pediátrica de México application/pdf Instituto Nacional de Pediatría Acta Pediátrica de México (México) Num.5 Vol.32 |
| format | Artículo científico |
| id | redalyc_423640331004 |
| institution | Redalyc |
| language | en |
| publishDate | 2011 |
| publisher | Instituto Nacional de Pediatría |
| spellingShingle | Gaucher disease in Mexico. Epidemiologic overview Luis Carbajal-Rodriguez Medicina homocygote heterocygote Gaucher disease glucocerebrosidase lysosomal storage diseas Gaucher disease in Mexico. Epidemiologic overview Luis Carbajal-Rodriguez Aitana Voirol-Garcia Ignacio Mora-Magaña Raymundo Rodriguez- Herrera Jorge Zarco-Roman Medicina homocygote heterocygote Gaucher disease glucocerebrosidase lysosomal storage diseas Introduction: Gaucher disease (GD) is a rare genetic recessive autosomical lysosomal storage disease, characterized by deficient activity of glucocerebrosidase. Treatment is available, but a lack of legislation for it in Mexico limits its use. This report describes the clinical features of a Mexican sample of affected subjects.Material and Methods: Sixty-three confirmed patientsregistered in the Mexican Gaucher Association from 1983-2006 were studied. Age, sex, type, mutation, manifestations, and treatment were evaluated. There were 32 males (50.7%) and 31 females (49.3%); mean age was 21.8 years.Results: Type 1 GD affected 51 (80.9%) and type 3 affected 12 (19.1%) patients. Average age at diagnosis was 12.4 years. Thirty-seven patients were N370S heterozygotes and 6 patients were N370S homozygotes. L444P was found in 14 heterozygote patients and in 6 L444P homozygotes. No L444P homozygote was reported in patients with type 1 GD, and no N370S was observed in patients with type 3 GD. Clinical manifestations were reported in the following percentages of patients: hepatomegaly, 19.04%; hepatosplenomegaly, 80.9%; hematological disorder 58.7%; bone disorder, 100%; neurological disorder, 19.04%. Only 40 (63.4) were under enzyme replacement therapy.Discussion: This is the first complete report of patients with GD in Mexico. Rare disease and orphan drug legislation is needed in Mexico. 2011 artículo científico 0186-2391 https://www.redalyc.org/articulo.oa?id=423640331004 en http://www.redalyc.org/revista.oa?id=4236 Acta Pediátrica de México application/pdf Instituto Nacional de Pediatría Acta Pediátrica de México (México) Num.5 Vol.32 |
| title | Gaucher disease in Mexico. Epidemiologic overview |
| topic | Medicina homocygote heterocygote Gaucher disease glucocerebrosidase lysosomal storage diseas |
| url | https://www.redalyc.org/articulo.oa?id=423640331004 |