Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
An. bras. dermatol
;
89(1): 141-143, Jan-Feb/2014. graf
Artículo
en Inglés
| LILACS
| ID: lil-703546
ABSTRACT
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Neoplasias Cutáneas
/
Enfermedad de Fabry
/
Angioqueratoma
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2014
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de Sao Paulo/BR
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