Variable phenotypic presentations of renal involvement in Fabry disease: a case series

F1000Research
Sarah McCloskeyJohn A Sayer

Abstract

Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation. In a cohort of patients affected by Fabry disease in the North East of England we examine the different phenotypic presentations of eight index cases (6 male, 2 female) with predominantly renal disease and the renal manifestations within their family members. The mean age of presentation was 40 years of age (range 23-59 years). Various multisystem manifestations were observed including cardiac, neurological, cerebrovascular and skin involvement. Two of the male index patients reached end stage renal disease (ESRD) requiring renal replacement therapy. Two female index patients had phenotypes limited to hypertension and proteinuria at presentation and the remaining patients had eit...Continue Reading

References

Jul 1, 1993·Human Molecular Genetics·J P DaviesS Malcolm
Aug 15, 2002·Molecular Genetics and Metabolism·Junaid ShabbeerRobert J Desnick
Oct 19, 2004·Seminars in Nephrology·Adalberto SessaRenzo Mignani
Feb 17, 2005·Pediatrics·Markus RiesRaphael Schiffmann
Dec 21, 2006·Annals of Internal Medicine·Maryam BanikazemiUNKNOWN Fabry Disease Clinical Trial Study Group
Nov 1, 2008·Kidney International·J A SayerP Brennan
Feb 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRobert J Desnick
Apr 10, 2009·Journal of the American Society of Nephrology : JASN·Michael WestRaphael Schiffmann
Sep 4, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Christoph WannerDavid G Warnock
Nov 13, 2010·Nephron. Clinical Practice·Gaurav Jain, David G Warnock
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Feb 5, 2013·QJM : Monthly Journal of the Association of Physicians·M BradyJ A Sayer
Jul 6, 2013·Journal of Inherited Metabolic Disease·Paul Brennan, Oliver Parkes
May 27, 2014·Lancet·Olivier DevuystUNKNOWN Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transpl
Mar 22, 2015·Journal of Medical Genetics·Dominique P GermainWilliam R Wilcox
Apr 1, 2013·Clinical Kidney Journal·Tsung-Liang Ma, G H Neild
Aug 11, 2016·The New England Journal of Medicine·Dominique P GermainRaphael Schiffmann
Apr 4, 2017·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Antonio PisaniEleonora Riccio

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Citations

Oct 17, 2021·Experimental & Molecular Medicine·Jin Won KimYong Kyun Kim

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Methods Mentioned

BETA
biopsy
electron microscopy

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