Fabry disease diagnostic guideline
نویسندگان
چکیده
منابع مشابه
Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker
Hospital Rijeka with a two-year history of failure to thrive and widespread skin lesions. Before the admission, he was seen by numerous physicians regarding these signs, without the working diagnosis. On physical examination, the boy’s weight and height were below the 5th percentile age curve. Close inspection of the skin revealed widespread angiokeratomas, most dense over the umbilical region ...
متن کاملFabry 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...
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ژورنال
عنوان ژورنال: Orvosi Hetilap
سال: 2010
ISSN: 0030-6002,1788-6120
DOI: 10.1556/oh.2010.28795