Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease

ConclusionsWe demonstrate that histological lesions, typical for FD, can be observed in kidney biopsies at a very young age in patients without classical clinical symptoms or laboratory abnormalities. Thus, we recommend kidney biopsies as a possible tool for early diagnosis of renal involvement in FD. As a consequence of these early biopsy findings without a clinical correlate, an early initiation of ERT should be considered.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research