Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy

Clin Kidney J. 2021 Aug 13;15(1):171-173. doi: 10.1093/ckj/sfab148.

PMID: 35035949

Fabio R Salerno, Letizia Roggero, Federica Rossi

Highlights: In this paper, the importance of electron microscopy is highlighted and histological features common to Fabry nephropathy and minimal change disease (MCD) are discussed.

Abstract:

Objective and results: In this article, the case of a 76-year-old man is discussed who has Fabry cardiomyopathy and nephropathy due to late-onset Fabry disease caused by the p.N215S missense mutation. In this instance, the discovery of Fabry disease was unintentional and came after the development of minimal change disease (MCD), which was accompanied by acute kidney injury, nephrotic syndrome, and the need for renal replacement therapy. The p.N215S mutation-related Fabry nephropathy is increasingly being identified in elderly patients.

Conclusion: The significance of electron microscopy is emphasized here, and the histological characteristics shared by Fabry nephropathy and MCD are reviewed, along with the difficulties in diagnosing and treating patients.

Keywords: Fabry disease, Fabry nephropathy, acute kidney injury, minimal change disease, nephrotic syndrome, superimposed glomerulopathies