Fabry Disease
| Autor: | Bokhari SRA; Tulane Un, Un Med Center New Orleans, Zulfiqar H; Hamad Medical Corporation, Doha, Qatar, Hariz A; Charles Nicolle Hospital, Un. of Tunis El Manar |
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| Jazyk: | angličtina |
| Zdroj: | 2022 Jan. |
| Abstrakt: | Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral glycosphingolipids and globotriaosylceramide GL-3. Angiokeratoma corporis diffusum is the typical skin lesion seen in Fabry disease and is linked to renal involvement, especially proteinuria. Young adults presenting with a cerebrovascular event in association with myocardial infarction and renal dysfunction should be considered for Fabry disease. Abnormalities in almost any part of the body can be found with more predisposition of the skin, eye, kidney, heart, brain, and peripheral nervous system. (Copyright © 2022, StatPearls Publishing LLC.) |
| Databáze: | MEDLINE |
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