Anderson-Fabry Disease: Extrarenal, Neurologic Manifestations
نویسندگان
چکیده
منابع مشابه
Anderson-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 کاملCardiac manifestations of Anderson-Fabry disease in heterozygous females.
OBJECTIVES We sought to define the prevalence of cardiac involvement in female patients with Anderson-Fabry disease (AFD). BACKGROUND Anderson-Fabry disease is a rare inborn X-linked lysosomal storage disorder. Globotriaosylceramide (Gb(3)), the major substrate of the deficient alpha-galactosidase A enzyme, accumulates progressively in vulnerable cells, including the cardiovascular system. It...
متن کاملAnderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient...
متن کاملEnzyme replacement therapy for Anderson-Fabry disease.
BACKGROUND Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. OBJECTIVES To evaluate the effectiveness and safety of enzyme replacement therapy compare...
متن کامل[Neurologic manifestations of Behçet's disease].
Characterised classically by the association of buccal and genital ulceration and uveitis with hypopyon, Behçet's disease has many other manifestations, amongst which the neurological ones (often referred to as Neuro-Behçet) are important in view of their frequency and their gravity. Anatomically, it produces a subacute haemorrhagic and necrotising meningo-encephalitis, which most typically eff...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2002
ISSN: 1046-6673,1533-3450
DOI: 10.1097/01.asn.0000015239.57436.18