Koroška osrednja knjižnica dr. Franca Sušnika Ravne na Koroškem (SIKRA)
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  • Prognostic indicators of renal disease progression in adults with Fabry disease [Elektronski vir] : natural history data from the Fabry Registry
    Wanner, Christoph ...
    Background and objectives: These analyses were designed to characterize renal disease progression in untreated adults with Fabry disease. Design, setting, participants, & measurements: Data from the ... Fabry Registry for 462 untreated adults (121 men and 341 women) who had at least two estimated GFR (eGFR) values over a span of %12 months before starting enzyme replacement therapy were included. Results: Most men (86 of 121, 71%) had more rapid loss of kidney function than the normal adult population (loss of eGFR > %1 ml/min per 1.73 m2 per year), whereas fewer women (133 of 341, 39%) had rapid loss of kidney function. Patients with rapid progression had significantly higher mean averaged urinary protein to urinary creatinine ratios (UP/Cr) than patients with slower progression (1.5 versus 0.2 for men; 1.4 versus 0.5 for women; P < 0.0001). Patients were grouped into quartiles based on averaged UP/Cr; renal function in men declined more rapidly with higher UP/Cr, with the steepest declines observed in men with UP/Cr > 1.5 (mean eGFR slope, %5.6 ml/min per 1.73 m2 per year; n = 30). eGFR slope declined more slowly in women, with the steepest declines observed in women with UP/Cr > 1.2 (mean eGFR slope, %1.3 ml/min per 1.73 m2 per year; n = 85). Regression models of eGFR slope indicated that UP/Cr is the most important indicator of renal disease progression in adult Fabry patients. In women, lower baseline eGFR and age were also associated with renal disease progression. Women who had clinical events had more rapid loss of kidney function. Conclusions: Urinary protein excretion is strongly associated with renal disease progression in men and women with Fabry disease. Fabry disease is an X-linked lysosomal storage disorder, characterized by decreased or absent activity of lysosomal %-galactosidase A (1), with progressive accumulation of globotriaosylceramide (GL-3) and other glycosphingolipids within many cells, including the vascular endothelium. In the kidney, this accumulation is observed in all glomerular cells, peritubular capillaries, vascular endothelial and smooth muscle cells, and distal tubular cells (2%4). Progressive GL-3 accumulation is associated with life-threatening complications, renal failure, cardiovascular dysfunction, and stroke (1,5). Whereas the development of enzyme replacement therapy (ERT) represented a major advance in treating Fabry disease (6%8), patients with advanced renal disease have poorer clinical outcomes in response to ERT than do Fabry patients with milder disease (3,9). A better understanding of the natural history of Fabry disease may provide valuable information about the progressive loss of kidney function and risk of progressing to ESRD, as well as providing an appropriate context for evaluating response to therapy. The Fabry Registry is an observational database that compiles clinical and laboratory data on patients with Fabry disease. Longitudinal data from the Fabry Registry were analyzed to characterize changes in kidney function and cardiac and cerebrovascular events over time in adult Fabry patients before the initiation of ERT.
    Vir: Clinical journal of the American Society of Nephrology [Elektronski vir]. - ISSN 1555-905X (Vol. 5, issue 12, 1. dec. 2010, p. 2220-2228)
    Vrsta gradiva - e-članek
    Leto - 2010
    Jezik - angleški
    COBISS.SI-ID - 17193524

    Povezava(-e):

    https://cjasn.asnjournals.org/content/5/12/2220
    DOI

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