Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy

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Goicoechea, Marian
Gómez Preciado, Francisco
Benito, Silvia
Torras Ambros, Joan
Torra, Roser
Huerta, Ana
Restrepo, Alejandra
Ugalde, Jessica
Astudillo, Daniela Estefania
Agraz, Irene
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Spanish Group for the Study of Glomerular Diseases (GLOSEN)
cc-by-nc-nd  (c) Elsevier, 2021
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Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and predictors of clinical events in patients on ERT. Study design. Multicentre retrospective observational analysis of patients diagnosed and treated with ERT for Fabry disease. The primary outcome was the first renal, neurological or cardiological events or death during a follow-up of 60 months (24–120). Results. In 69 patients (42 males, 27 females, mean age 44.6 ± 13.7 years), at the end of follow-up, eGFR and the left ventricular septum thickness remained stable and the urinary albumin: creatinine ratio tended to decrease, but this decrease only approached significance in patients on agalsidase-beta (242–128 mg/g (p = 0.05). At the end of follow-up, 21 (30%) patients had suffered an incident clinical event: 6 renal, 2 neurological and 13 cardiological (including 3 deaths). Events were more frequent in patients with baseline eGFR ≤ 60 ml/min/1.73 m2 (log Rank 12.423, p = 0.001), and this remained significant even after excluding incident renal events (log Rank 4.086, p = 0.043) and in males and in females. Lower baseline eGFR was associated with a 3- to 7-fold increase the risk of clinical events in different Cox models. Conclusions. GFR at the initiation of ERT is the main predictor of clinical events, both in males and in females, suggesting that start of ERT prior to the development of CKD is associated with better outcomes.
Journal or Serie
Nefrología, 2021, vol. 41, núm. 6, p. 652-660