Advanced search
1 file | 209.36 KB Add to list

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice

Author
Organization
Abstract
Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected patients also exhibit a decreased ability to sweat. Later in life, FD results in left ventricular hypertrophy, proteinuria, renal failure and stroke. These later disease manifestations are non-specific and also common in diabetes, hypertension and atheromatosis and thus for most practitioners do not point into the direction of FD. As a consequence, FD is under-diagnosed and screening of high-risk groups is important for case finding, as is a thorough pedigree analysis of affected patients. In the nephrology clinic, we suggest to screen patients for FD when there is unexplained chronic kidney disease in males younger than 50 years and females of any age. In men, this can be performed by measuring α-galactosidase A activity in plasma, white blood cells or dried blood spots. In women, mutation analysis is necessary, as enzyme measurement alone could miss over one-third of female Fabry patients. A multidisciplinary team should closely monitor all known Fabry patients, with the nephrologist screening kidney impairment (glomerular filtration rate and proteinuria) on a regular basis. Transplanted Fabry patients have a higher mortality than the regular transplant population, but have acceptable outcomes, compared with Fabry patients remaining on dialysis. It is unclear whether enzyme replacement therapy (ERT) prevents deterioration of kidney function. In view of the lack of compelling evidence for ERT, and the low likelihood that a sufficiently powered randomized controlled trial on this topic will be performed, data of all patients with FD should be collected in a central registry.
Keywords
HEMODIALYSIS-PATIENTS, D ANALOGS, VASCULAR CALCIFICATION, CHRONIC KIDNEY-DISEASE, RANDOMIZED CONTROLLED-TRIAL, screening, Fabry nephropathy, Fabry disease, UREMIC RATS, SERUM 25-HYDROXYVITAMIN-D, PARICALCITOL THERAPY, DIABETIC-NEPHROPATHY, CARDIAC-HYPERTROPHY

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 209.36 KB

Citation

Please use this url to cite or link to this publication:

MLA
Terryn, Wim, Pierre Cochat, Roseline Froissart, et al. “Fabry Nephropathy: Indications for Screening and Guidance for Diagnosis and Treatment by the European Renal Best Practice.” NEPHROLOGY DIALYSIS TRANSPLANTATION 28.3 (2013): 505–517. Print.
APA
Terryn, W., Cochat, P., Froissart, R., Ortiz, A., Pirson, Y., Poppe, B., Serra, A., et al. (2013). Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. NEPHROLOGY DIALYSIS TRANSPLANTATION, 28(3), 505–517.
Chicago author-date
Terryn, Wim, Pierre Cochat, Roseline Froissart, Alberto Ortiz, Yves Pirson, Bruce Poppe, Andreas Serra, Wim Van Biesen, Raymond Vanholder, and Christoph Wanner. 2013. “Fabry Nephropathy: Indications for Screening and Guidance for Diagnosis and Treatment by the European Renal Best Practice.” Nephrology Dialysis Transplantation 28 (3): 505–517.
Chicago author-date (all authors)
Terryn, Wim, Pierre Cochat, Roseline Froissart, Alberto Ortiz, Yves Pirson, Bruce Poppe, Andreas Serra, Wim Van Biesen, Raymond Vanholder, and Christoph Wanner. 2013. “Fabry Nephropathy: Indications for Screening and Guidance for Diagnosis and Treatment by the European Renal Best Practice.” Nephrology Dialysis Transplantation 28 (3): 505–517.
Vancouver
1.
Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. NEPHROLOGY DIALYSIS TRANSPLANTATION. 2013;28(3):505–17.
IEEE
[1]
W. Terryn et al., “Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice,” NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 28, no. 3, pp. 505–517, 2013.
@article{3120248,
  abstract     = {Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected patients also exhibit a decreased ability to sweat. Later in life, FD results in left ventricular hypertrophy, proteinuria, renal failure and stroke. These later disease manifestations are non-specific and also common in diabetes, hypertension and atheromatosis and thus for most practitioners do not point into the direction of FD. As a consequence, FD is under-diagnosed and screening of high-risk groups is important for case finding, as is a thorough pedigree analysis of affected patients. In the nephrology clinic, we suggest to screen patients for FD when there is unexplained chronic kidney disease in males younger than 50 years and females of any age. In men, this can be performed by measuring α-galactosidase A activity in plasma, white blood cells or dried blood spots. In women, mutation analysis is necessary, as enzyme measurement alone could miss over one-third of female Fabry patients. A multidisciplinary team should closely monitor all known Fabry patients, with the nephrologist screening kidney impairment (glomerular filtration rate and proteinuria) on a regular basis. Transplanted Fabry patients have a higher mortality than the regular transplant population, but have acceptable outcomes, compared with Fabry patients remaining on dialysis. It is unclear whether enzyme replacement therapy (ERT) prevents deterioration of kidney function. In view of the lack of compelling evidence for ERT, and the low likelihood that a sufficiently powered randomized controlled trial on this topic will be performed, data of all patients with FD should be collected in a central registry.},
  author       = {Terryn, Wim and Cochat, Pierre and Froissart, Roseline and Ortiz, Alberto and Pirson, Yves and Poppe, Bruce and Serra, Andreas and Van Biesen, Wim and Vanholder, Raymond and Wanner, Christoph},
  issn         = {0931-0509},
  journal      = {NEPHROLOGY DIALYSIS TRANSPLANTATION},
  keywords     = {HEMODIALYSIS-PATIENTS,D ANALOGS,VASCULAR CALCIFICATION,CHRONIC KIDNEY-DISEASE,RANDOMIZED CONTROLLED-TRIAL,screening,Fabry nephropathy,Fabry disease,UREMIC RATS,SERUM 25-HYDROXYVITAMIN-D,PARICALCITOL THERAPY,DIABETIC-NEPHROPATHY,CARDIAC-HYPERTROPHY},
  language     = {eng},
  number       = {3},
  pages        = {505--517},
  title        = {Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice},
  url          = {http://dx.doi.org/10.1093/ndt/gfs526},
  volume       = {28},
  year         = {2013},
}

Altmetric
View in Altmetric
Web of Science
Times cited: