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

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 init...

Full description

Saved in:
Bibliographic Details
Published in:Anais brasileiros de dermatología Vol. 89; no. 1; pp. 141 - 143
Main Authors: Silva, Letícia Bueno Nunes da, Badiz, Thais Cardoso de Mello Tucunduva, Enokihara, Milvia Maria Simões e Silva, Porro, Adriana Maria
Format: Journal Article
Language:English
Published: Brazil Sociedade Brasileira de Dermatologia 01-01-2014
Subjects:
Adolescent
Adult
alpha-Galactosidase
Angiokeratoma
Angiokeratoma - genetics
Angiokeratoma - pathology
Biopsy
Case Report
Child
DERMATOLOGY
Early Diagnosis
Fabry disease
Fabry Disease - genetics
Fabry Disease - pathology
Female
Genotype
Humans
Male
Mutation
Siblings
Skin Neoplasms - genetics
Skin Neoplasms - pathology
Fabry disease
alpha-Galactosidase
Angiokeratoma
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0365-0596
1806-4841
1806-4841
0365-0596
DOI:10.1590/abd1806-4841.20142785