Article

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

2018-03-22

Abstract excerpt

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 phen...

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Literature Corpus work: 28707df0-be16-5358-b28c-c8723763804c
DOI: 10.12688/f1000research.13708.1

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