منابع مشابه
The Kidney in Fabry Disease
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature. Classical patients with mutations in the a-galactosidase A gene accumulate globotriaosylceramide and become symptomatic in childhood with pain, gastrointestinal disturbances, angiokeratoma, and hypohidrosis. Classical ...
متن کاملFabry Disease Chronic Kidney Disease
Fabry disease (FD) arises from an X-linked defect in lipid storage, whereby deficient or absent lysosomal α-galactosidase A (α-gal A) activity leads to systemic deposition of glycosphingolipids, mainly globotriaosylceramide (known as Gb3 or GL3). Deposition mainly affects the cardiovascular, renal, and neurologic systems, but can occur in all organs, and despite specific enzyme replacement ther...
متن کاملAgalsidase alfa and kidney dysfunction in Fabry disease.
In male patients with Fabry disease, an X-linked disorder of glycosphingolipid metabolism caused by deficient activity of the lysosomal enzyme alpha-galactosidase A, kidney dysfunction becomes apparent by the third decade of life and invariably progresses to ESRD without treatment. Here, we summarize the effects of agalsidase alfa on kidney function from three prospective, randomized, placebo-c...
متن کاملThe Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
BACKGROUND/AIMS Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fa...
متن کاملFabry disease: kidney involvement and enzyme replacement therapy.
CASE PRESENTATIONS Patient 1. A 50-year-old man with end-stage renal disease (ESRD) possibly secondary to Fabry disease commenced chronic ambulatory peritoneal dialysis (CAPD) 19 months ago. In childhood he presented with acroparesthesias and pain crises with fever, which were considered to be of psychosomatic origin. Remission of the symptoms occurred when he was 15 years old, but he continued...
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ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2016
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409816648169