scholarly journals Enzyme replacement therapy dose and Fabry nephropathy

2018 ◽  
Vol 33 (8) ◽  
pp. 1284-1289 ◽  
Author(s):  
Alberto Ortiz ◽  
Maria Dolores Sanchez-Niño
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Fabry Nephropathy

Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy

2020 ◽  
Author(s):  
Hiroaki Yonishi ◽  
Tomoko Namba-Hamano ◽  
Takayuki Hamano ◽  
Masaki Hotta ◽  
Jun Nakamura ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Podocyte Injury ◽  
Enzyme Replacement ◽  
Average Area ◽  
Potential Biomarker ◽  
Efficacy Assessment ◽  
Novel Biomarkers ◽  
Fabry Nephropathy

Abstract Background The inability of enzyme replacement therapy (ERT) to prevent progression of Fabry nephropathy (FN) in the presence of >1 g/day proteinuria underscores the necessity of identifying effective biomarkers for early diagnosis of FN preceding proteinuria. Here we attempted to identify biomarkers for early detection of FN. Methods Fifty-one Fabry disease (FD) patients were enrolled. Urinary mulberry bodies (uMBs) were immunostained for globotriaosylceramide (Gb3) and renal cell markers to determine their origin. The association between semiquantitative uMB excretion and the histological severity of podocyte vacuolation was investigated in seven patients using the vacuolated podocyte:glomerular average area ratio. The association between the semiquantitative estimate of uMB excretion and duration of ERT was analyzed. A longitudinal study was conducted to assess the effect of ERT on uMB excretion. Results Thirty-two patients (63%) had uMBs, while only 31% showed proteinuria. The uMBs were positive for Gb3, lysosomal-associated membrane protein 1 and podocalyxin, suggesting they were derived from lysosomes with Gb3 accumulation in podocytes. We observed more severe podocyte vacuolation with increased uMB excretion (P = 0.03 for trend); however, the same was not observed with increased proteinuria. The percentage of patients with substantial uMB excretion increased with shorter ERT duration (P = 0.018). Eighteen-month-long ERT reduced uMB excretion (P = 0.03) without affecting proteinuria. Conclusions uMB excretion, implying ongoing podocyte injury, preceded proteinuria in most patients. Semiquantitative uMB estimates can serve as novel biomarkers for early FN diagnosis and for monitoring the efficacy of FD-specific therapies.

scholarly journals The Management of Fabry Nephropathy

2016 ◽  
Vol 2 (1) ◽  
pp. pocj.5000203 ◽  
Author(s):  
Renzo Mignani
Keyword(s):  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Kidney Biopsy ◽  
Supportive Therapy ◽  
Organ Damage ◽  
Enzyme Replacement ◽  
History Of ◽  
Fabry Nephropathy ◽  
Key Questions

A case of an adult female with Fabry disease is described with discussion based on the following key questions: 1. What is the natural history of Fabry nephropathy? 2. What are the indications to perform kidney biopsy in Fabry disease? 3. How to perform the workout of the patient in recognition of systemic organ damage? 4. Is the missed recognition of Fabry disease frequent in dialysis patients? 5. When and which patients are eligible to start enzyme replacement therapy? 6. Is enzyme replacement therapy effective in Fabry nephropathy? 7. What is the outcome of the patient who underwent a kidney transplantation? 8. Is the supportive therapy important in Fabry disease nephropathy? 9. What are the future therapeutic perspectives?

scholarly journals Enzyme Replacement Therapy and Fabry Nephropathy

2009 ◽  
Vol 5 (2) ◽  
pp. 371-378 ◽  
Author(s):  
David G. Warnock ◽  
Erica Daina ◽  
Giuseppe Remuzzi ◽  
Michael West
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Fabry Nephropathy

scholarly journals SP016LONG-TERM ENZYME REPLACEMENT THERAPY(ERT) BENEFITS THE GLOMERULI MORE THAN THE VASCULATURE IN YOUNGER FABRY NEPHROPATHY PATIENTS

2015 ◽  
Vol 30 (suppl_3) ◽  
pp. iii385-iii386
Author(s):  
Rannveig Skrunes ◽  
Camilla Tøndel ◽  
Kristin Kampevold Larsen ◽  
Einar Svarstad
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Fabry Nephropathy

Differential response of glomerular parietal epithelial cells and podocytes to enzyme replacement therapy in Fabry nephropathy

2016 ◽  
Vol 117 (2) ◽  
pp. S33-S34
Author(s):  
Fu-Pang Chang ◽  
Michael Mauer ◽  
Alexey Sokolovskiy ◽  
Camilla Tøndel ◽  
Einar Svarstad ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Differential Response ◽  
Enzyme Replacement ◽  
Fabry Nephropathy ◽  
Parietal Epithelial Cells

scholarly journals Fabry nephropathy: 5 years of enzyme replacement therapy--a short review

2007 ◽  
Vol 1 (1) ◽  
pp. 11-19 ◽  
Author(s):  
F. Barbey ◽  
O. Lidove ◽  
A. Schwarting
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Short Review ◽  
Enzyme Replacement ◽  
Fabry Nephropathy
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