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2012, Number 1

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Rev Med Inst Mex Seguro Soc 2012; 50 (1)

Gaucher´s disease: clinical picture in 11 children

Franco-Ornelas S, González-Vite M, Núñez-Villegas N, Solís-Labastida K, Mena BTJ

Language: Spanish
References: 30
Page: 107-112
PDF size: 48.84 Kb.


ABSTRACT

Background: Gaucher’s disease, the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance with a deficiency of the acid β-glucosidase enzyme. Our objective was to describe the clinical features, symptoms, evolution and treatment of Gaucher’s disease in Mexican pediatric patients.
Methods: the medical files of every patient diagnosed with Gaucher’s treated during the last 11 years at the Pediatrics Department at General Hospital “Dr. Gaudencio González Garza” were reviewed. Demographic and clinical data were registered.
Results: eleven patients were diagnosed with Gaucher’s Disease: eight women and three men between the age of 7 and 172 months. Four patients were classified as type I, two as type II and five as type III.
Conclusions: a better understanding of the clinical features and diverse phenotypes in Mexican patients with Gaucher disease will contribute to a timely diagnosis and a continuous, individualized treatment.


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