Frédéric Barbey

TL;DR: By comparison with historical natural history data for patients with Fabry's disease who were not treated with enzyme replacement therapy, long-term treatment with agalsidase alfa leads to substantial and sustained clinical benefits.

TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.

TL;DR: Evidence is provided that a regularly followed medical program based on high diuresis and alkalization with second line addition of thiols may arrest or markedly decrease cystine stone formation and preclude the need for urological procedures in more than half of the patients.

TL;DR: Severe forms of nephrolithiasis remain an underestimated cause of potentially avoidable ESRD and need for renal replacement therapy and these findings highlight the crucial importance of accurate stone analysis and metabolic evaluation to provide early diagnosis and proper therapy for conditions that may lead to E SRD through recurrent stone formation and/or parenchymal crystal infiltration.

TL;DR: LVH and CCA IMT occur concomitantly in Fabry suggesting common pathogenesis, and the underlying cause may be a circulating growth-promoting factor whose presence has been confirmed in vitro.