Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

Genes (Basel). 2022 Sep 28;13(10):1751. doi: 10.3390/genes13101751.

PMID: 36292636

Sebastián Jaurretche, Hernan Conde, Ana Gonzalez Schain

Highlights: It is aimed to review which biomarkers are useful for nephropathy follow-up among Fabry "amenable" patients receiving migalastat.

Abstract

Background: A significant Fabry disease consequence is nephropathy. Even in pediatric patients, glomerulosclerosis is found in kidney biopsies. Reduced glomerular filtration rate and proteinuria are the two primary symptoms of Fabry nephropathy. For the treatment of Fabry patients with "amenable" mutations, an oral pharmaceutical Chaperone was authorized in 2016.

Objective and methods: It is important to assess which biomarkers are effective for nephropathy follow-up among Fabry "amenable" patients receiving migalastat because (i) Fabry disease is a rare disorder that frequently results in kidney impairment and (ii) a new treatment is currently accessible. The following databases were used for the literature search: MEDLINE, EMBASE, SCOPUS, Cochrane, and Google academic. Prospective studies having at least six months of follow-up with renal biomarkers as the dependent variable or criteria were considered. Finally, pertinent data was gathered in an ad hoc database and compiled the key findings.

Conclusion: For Fabry "amenable" patients receiving migalastat, the most practical biomarker for nephropathy monitoring at this time is glomerular filtration rate, which is calculated using formulae that also take blood creatinine into account.

Keywords: Fabry disease, biomarker, migalastat, renal disease