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

Anais Brasileiros de Dermatologia

Leticia Bueno Nunes Da Silva¹  Thais Cardoso De Mello Tucunduva Badiz¹  Milvia Maria Simoes E Silva Enokihara¹  Adriana Maria Porro¹ 

关键词: Angiokeratoma;    Fabry disease;    alpha-Galactosidase;   

DOI  :  10.1590/abd1806-4841.20142785

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC   
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