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. 2021 Nov-Dec;41(6):652-660.
doi: 10.1016/j.nefroe.2022.01.003.

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

Marian Goicoechea  1 , Francisco Gomez-Preciado  2 , Silvia Benito  3 , Joan Torras  4 , Roser Torra  5 , Ana Huerta  6 , Alejandra Restrepo  7 , Jessica Ugalde  8 , Daniela Estefania Astudillo  9 , Irene Agraz  10 , Manuel Lopez-Mendoza  11 , Gabriel de Arriba  12 , Elena Corchete  13 , Borja Quiroga  14 , Maria Jose Gutierrez  15 , Maria Luisa Martin-Conde  16 , Vanessa Lopes  17 , Carmela Ramos  18 , Irene Mendez  19 , Mercedes Cao  9 , Fernando Dominguez  7 , Alberto Ortiz  20 ; Spanish Group for the Study of Glomerular Diseases (GLOSEN)
Affiliations
Free article

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

Marian Goicoechea et al. Nefrologia (Engl Ed). 2021 Nov-Dec.
Free article

Abstract

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 (242-128mg/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≤60ml/min/1.73m2 (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.

Keywords: Chronic kidney disease Enzyme replacement therapy; Enfermedad de Fabry; Enfermedad renal crónica; Eventos renales; Fabry disease; Renal events; Tratamiento enzimático sustitutivo.

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