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Biomarkers of Fabry Disease Nephropathy

Raphael Schiffmann^*, Stephen Waldek, Ariela Benigni, and Christiane Auray-Blais

^* Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas; Hope Hospital, Salford Royal Hospital Trust, Manchester, United Kingdom; Mario Negri Institute for Pharmacological Research, Bergamo, Italy; and Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada

Correspondence: Dr. Raphael Schiffmann, Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226. Phone: 214-820-4533; Fax: 214-820-4853; E-mail: Raphael.Schiffmann{at}baylorhealth.edu

It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb₃) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb₃ decreases significantly with ERT, it has not yet been shown to be a valid surrogate marker in treatment trials. We propose a detailed study of the nature and origin of Gb₃ combined with a prospective collaborative trial that combines Gb₃ changes with the effect of ERT on clinical nephrological outcome measures. Existing biomarkers such as general proteinuria/albuminuria or specific proteins such as N-acetyl-β-d-glucosaminidase should be evaluated along with novel proteomic or metabolomic studies for biomarker discovery using mass spectrometry or nuclear magnetic resonance. Standard scoring of all pathologic aspects of kidney biopsies may also be a promising way to assess the effect of therapy.