Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Author Silva, Leticia Bueno Nunes Da Google Scholar
Badiz, Thais Cardoso De Mello Tucunduva Google Scholar
Enokihara, Milvia Maria Simoes E Silva Google Scholar
Porro, Adriana Maria Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
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.
Keywords Angiokeratoma
Fabry disease
alpha-Galactosidase
Language English
Date 2014-01-01
Published in Anais Brasileiros de Dermatologia. Sociedade Brasileira de Dermatologia, v. 89, n. 1, p. 141-143, 2014.
ISSN 0365-0596 (Sherpa/Romeo)
Publisher Sociedade Brasileira de Dermatologia
Extent 141-143
Origin http://dx.doi.org/10.1590/abd1806-4841.20142785
Access rights Open access Open Access
Type Article
SciELO ID S0365-05962014000100141 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/8203

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