Fabry Disease & Nephrology
Progressive nephropathy is a prominent feature of Fabry Disease.1 Although typically occuring by the third to fifth decade of life in males with Fabry disease, end-stage renal disease (ESRD) can occur as early as 16 years of age. By adulthood, renal failure is likely to be a major complication of Fabry disease, with over half of males and more than 20% of females eventually developing advanced or ESRD.2
Renal damage as a result of GL-3 accumulation in various renal cells can start as early as the first decade of life, often preceding laboratory abnormalities and clinical symptom onset.2
In males and females, progressive accumulation of GL-3 in podocytes, followed by podocyte injury, manifests later as proteinuria and reduced glomerular filtration rate, which can ultimately lead to CKD or progression to ESRD.3,4
Renal manifestations over time2,5-9
The following series of short videos by Professor John Sayer (Newcastle University) is designed to improved awareness and understanding of Fabry disease in clinical practice:
References
- Germain DP. Orphanet J Rare Dis. 2010; 5(30): 1–49
- Ramaswami U, Najafian B, Schieppati A, et al. Clin J Am Soc Nephrol. 2010;5(2):365–370.
- Najafian B, et al. Kidney Int. 2011;79(6):663–670.
- Torra R. Kidney Int. Suppl. 2008;(Suppl. 111):S29-S32.
- Tøndel C, Bostad L, Hirth A, et al. Am J Kidney Dis. 2008;51(5):767–776.
- Wanner C, Oliveira JP, Ortiz A, et al. Clin J Am Soc Nephrol. 2010;5(12):2220–2228.
- Warnock DG, Ortiz A, Mauer M, et al. Nephrol Dial Transplant. 2012;27(3):1042–1049.
- Ortiz A, Oliveira JP, Waldek S, et al. Nephrol Dial Transplant. 2008;23(5):1600–1607.
- Ortiz A, Cianciaruso B, Cizmark M, et al. Nephrol Dial Transplant. 2010;25(3):769–775.
- https://www.raredisease.org.uk/media/1588/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf Accessed: February 2022.
