Renal manifestations in Fabry disease and therapeutic options
نویسندگان
چکیده
منابع مشابه
Cardiovascular manifestations of Fabry disease and the novel therapeutic strategies.
Fabry disease is an inherited lysosomal storage disorder characterized by a pathological intracellular glycosphingolipid deposition. The disease is caused by a deficit in the lysosomal enzyme alpha-galatosidase A, the gene for which is located in the X chrosomal region Xq 22. Globotriaosylceramide (Gb3) accumulate progressively in multi-organ vulnerable cells throughout the body, including card...
متن کاملRenal pathology in Fabry disease.
JOSEPH ALROY,* SHARDA SABNIS, and JEFFREY B. KOPP *Department of Pathology, Tufts University Schools of Veterinary Medicine and Medicine, and New England Medical Center, Boston, Massachusetts; Division of Nephrology, Armed Forces Institute of Pathology, Washington, DC; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Be...
متن کاملRenal involvement in Fabry disease.
Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders ...
متن کاملAnderson-Fabry disease: extrarenal, neurologic manifestations.
The advent of enzyme replacement therapy for AndersonFabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promotes development of disease-related complications associated with renal, cardiovascular, and cere...
متن کاملFabry Disease: New Therapeutic Approach
Fabry’s disease is an X-linked recessive lysosomal storage disorder that is caused by the deficient activity of the lysosomal α-galactosidase (α-GAL A). This results in the accumulation of globotriaosylceramide (GL3 or ceramide trihexoside, CTH) and related glycosphingolipids. In hemizygous male patients with the classic phenotype, levels of αGAL A activity are very low or undetectable. Patient...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2008
ISSN: 0085-2538
DOI: 10.1038/ki.2008.522