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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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The Fabry Nephropathy in Patients with N215S Variant.

Renzo Mignani^1,2, Gian Marco Berti¹, Gisella Vischini²

¹Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.

|April 6, 2025

Summary

Fabry disease (FD) is a rare genetic disorder. This review focuses on the N215S variant, often associated with cardiac issues, and examines its impact on kidney function in late-onset FD patients.

Keywords:

Cardiopathy Cardiovascular outcomes Fabry disease Late onset N215S Renal outcome

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Last Updated: May 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins

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Published on: January 18, 2019

Area of Science:

Genetics and rare diseases
Lysosomal storage disorders
Nephrology

Background:

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene.
Classic FD presents in childhood with severe complications including stroke, cardiac, and renal failure.
Late-onset FD typically manifests in adulthood with cardiac involvement.

Purpose of the Study:

To review Fabry nephropathy in patients with the N215S variant.
To provide insight into the clinical and histopathologic aspects of renal involvement in this specific FD population.

Main Methods:

Literature review of clinical and histopathologic studies.
Analysis of reported cases of Fabry nephropathy in N215S variant patients.

Main Results:

The N215S missense mutation is the most common late-onset FD variant in Europe.
Cardiac involvement is typically more prominent than extracardiac symptoms in N215S variant patients.
Renal involvement in the N215S variant has been historically underestimated and under-investigated.

Conclusions:

Fabry nephropathy in the N215S variant warrants further investigation.
Understanding renal involvement is crucial for comprehensive management of late-onset FD.
This review highlights the clinical and histopathologic features of Fabry nephropathy in the N215S variant.