Doença de Fabry: [revisão] / Fabry disease: [review]
An. bras. dermatol
;
84(4): 367-376, jul.-ago. 2009. ilus, tab
Article
in Portuguese
| LILACS
| ID: lil-529082
RESUMO
A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados. As autoras realizam revisão da literatura relacionada a essa afecção e ressaltam que o reconhecimento precoce dos angioqueratomas e da hipoidrose constitui sinal-chave no diagnóstico dessa doença grave. Destacam também a necessidade de esses doentes serem avaliados por equipe multidisciplinar.
ABSTRACT
Fabry disease is an uncommon, X-linked lysosomal storage disorder, caused by partial or complete deficiency of the enzyme a-galactosidase A. The defect leads to accumulation of uncleaved globotriaosylceramide on the vascular endothelium and visceral tissues, being the skin, heart, kidneys and central nervous system the most affected organs. We performed review of the literature related to the disease and emphasized that early recognition of angiokeratomas and hypohidrosis are key diagnostic signs of this serious disease. We also addressed the need of multidisciplinary assessment of these patients.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Fabry Disease
Type of study:
Diagnostic study
/
Etiology study
Limits:
Humans
Language:
Portuguese
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2009
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital General de Agudos J.M/AR
/
Universidade de Buenos Aires/AR
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