Esquivel ZR, Ramírez RAC

Language: Spanish
References: 13
Page: 243-248
PDF size: 71.99 Kb.

ABSTRACT

Fabry disease is a hereditary chromosome X ligand disease that produces a lysosomal storage disorder because of a deficiency of α-galactosidase A enzyme causing a globotriaosylceramide (Gb3) accumulation. (2,4) One of the most affected organs is the nervous system, that usually begins with pain crisis and dysesthesia of upgoing evolution. The physiopathology of the neuropathic pain is not completely elucidated, it is believed, nevertheless, that it’s consequence of small fibers affection. (4) The problem is the sub-diagnosis because it is a rare disease and the pain is easily minimize, so all the pertinent studies are generally not requested. The diagnosis of Fabry disease is made in patients with typical symptoms and signs, in combination with decrease enzyme activity in the men, or positive for a mutation in the gen α-galactosidase A(4).

REFERENCES

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