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Doença de Fabry: [revisão] / Fabry disease: [review]
Boggio, Paula; Luna, Paula Carolina; Abad, María Eugenia; Larralde, Margarita.
  • Boggio, Paula; Hospital General de Agudos J.M. Ramos Mejía. Buenos Aires. AR
  • Luna, Paula Carolina; Hospital General de Agudos J.M. Ramos Mejía. Buenos Aires. AR
  • Abad, María Eugenia; Hospital General de Agudos J.M. Ramos Mejía. Buenos Aires. AR
  • Larralde, Margarita; Universidade de Buenos Aires. Buenos Aires. AR
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.
Subject(s)

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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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