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Lookup NU author(s): Professor John SayerORCiD, Dr Sarah McCloskey, Dr Paul Brennan
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2018 McCloskey S et al. 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 either stable or progressive chronic kidney disease at the time of diagnosis. We demonstrate the need for a high index of suspicion in order to consider Fabry disease as a diagnosis and the importance of cascade genetic screening to identify affected family members so that treatment can be initiated in a timely fashion.
Author(s): Sayer JA, McCloskey S, Brennan P
Publication type: Article
Publication status: Published
Journal: F1000Research
Year: 2018
Volume: 7
Online publication date: 22/03/2018
Acceptance date: 22/03/2018
Date deposited: 30/05/2018
ISSN (print): 2046-1402
ISSN (electronic): 1759-796X
Publisher: F1000 Research Ltd
URL: https://doi.org/10.12688/f1000research.13708.1
DOI: 10.12688/f1000research.13708.1
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