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Parapelvic cysts, a distinguishing feature of renal Fabry disease

Nephrology Dialysis Transplantation Feb 05, 2018

Pisani A, et al. - Fabry’s disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear. It was recommended in this current study that physicians should consider the diagnosis of FD in presence of PC in renal patients, mainly in the presence of an unclear family history of renal disease and other stigmata of the disease.
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