منابع مشابه
Fabry disease and incidence of cancer
BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kid...
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
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 کاملCoexistant of Fabry Disease and IgA Glomerulonephritis in a 39 year old male
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2017
ISSN: 1750-1172
DOI: 10.1186/s13023-017-0701-6