Deborah Elstein, Gheona Altarescu, Michael Beck
Springer Science & Business Media, 02.08.2010 - 512 Seiten
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
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abnormalities Acta Paediatr agalsidase alfa agalsidase beta alpha-galactosidase analysis Anderson-Fabry disease Angiokeratoma antibodies assay Banikazemi baseline biochemical Biol biomarkers biopsy blood Buried cardiac cardiomyopathy ceramide cerebral chaperone Clin decreased deficiency Desnick RJ detection dose dysfunction effects efficacy endothelial cells endothelium Eng CM enzyme activity enzyme replacement therapy Fabry disease Fabry nephropathy Fabry Outcome Survey Fabry patients Fabry’s female patients fibroblasts gastrointestinal Gaucher disease Gb3Cer globotriaosylceramide glomerular glycolipid glycosphingolipids heart hemizygotes hemizygous heterozygotes heterozygous Hum Genet human hypertrophy increased Inherit Metab inhibitors involvement kidney left ventricular left ventricular hypertrophy lesions levels lipid LSDs male patients manifestations of Fabry Mehta membrane metabolic mg/kg mice missense Mol Genet Metab molecular Moore DF mutations nephropathy Neurol normal pain patients with Fabry Pediatr phenotype plasma protein proteinuria renal function reported residual Schiffmann screening significant Springer Science+Business Media stroke substrate symptoms tissue treatment urinary urine variant vascular