Fabry disease
نویسندگان
چکیده
منابع مشابه
Fabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...
متن کاملFabry disease.
More than a hundred years ago, in 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, independently reported on patients with multiple angiokeratomas as well as some other symptoms. Today, the disease is called Anderson-Fabry or only Fabry disease, or angiokeratoma corporis diffusum, the latter being more often found in dermatologic literature. Fabry disease is ...
متن کاملNephropathy in Fabry disease and iatrogenic phospholipidosis mimicking Fabry disease
Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...
متن کاملFabry Disease Chronic Kidney Disease
Fabry disease (FD) arises from an X-linked defect in lipid storage, whereby deficient or absent lysosomal α-galactosidase A (α-gal A) activity leads to systemic deposition of glycosphingolipids, mainly globotriaosylceramide (known as Gb3 or GL3). Deposition mainly affects the cardiovascular, renal, and neurologic systems, but can occur in all organs, and despite specific enzyme replacement ther...
متن کاملPediatric Fabry disease.
BACKGROUND Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder. OBJECTIVES To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials. DESIGN Prospective, cross-sectional, obse...
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ژورنال
عنوان ژورنال: Interní medicína pro praxi
سال: 2018
ISSN: 1212-7299,1803-5256
DOI: 10.36290/int.2018.003