Carbajal-Rodriguez L, Voirol-Garcia A, Mora-Magaña I, Rodriguez-Herrera R, Zarco-Roman J

Language: English
References: 11
Page: 277-280
PDF size: 132.70 Kb.

ABSTRACT

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 patients registered 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.

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