Diagnosing Fabry disease--delays and difficulties within discordant siblings.
نویسندگان
چکیده
منابع مشابه
Fabry dissase from the dentist view
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
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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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عنوان ژورنال:
- QJM : monthly journal of the Association of Physicians
دوره 108 7 شماره
صفحات -
تاریخ انتشار 2015