Renal manifestations of Fabry disease

Excerpt

Cross-sectional and cohort studies clearly show that renal manifestations occur early in life in a significant proportion of children, in many women, and in almost all men with Fabry disease. These manifestations ultimately progress to end-stage renal disease in nearly all males and some female patients. The prevalence of cortical and parapelvic renal cysts is also increased in patients with Fabry disease. A total of 132 of the 507 adult patients in FOS – the Fabry Outcome Survey – (26%; 54 females, 78 males) presented with an estimated glomerular filtration rate of less than 60 ml/min/1.73 m² (chronic kidney disease stages 3–5). In FOS, 22 patients are on dialysis and 26 have a kidney graft. It is anticipated that enzyme replacement therapy will alter the natural history of kidney disease in patients with Fabry disease.