Nephron · 2025
The Fabry Nephropathy in Patients with N215S Variant.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Mignani Renzo, Berti Gian Marco, Vischini Gisella, Di Costanzo Roberta, Ciurli Francesca, Fabbrizio Benedetta, Pasquinelli Gianandrea, La Manna Gaetano, Capelli Irene
Аннотация
BACKGROUND: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure. In the late-onset form, the disease appears in adulthood, often with signs of cardiac involvement.
SUMMARY: The N215S (p.Asn215Ser) missense mutation represents the most common late-onset variant in European countries. In these patients, cardiac involvement is usually more prominent than extracardiac signs and symptoms, which is why this form is often referred to as a cardiac variant. Renal involvement in the N215S variant has historically been considered infrequent and relatively mild, contributing little to the overall disease burden of late-onset FD, as it has not been thoroughly investigated.
KEY MESSAGES: In this review, we examine Fabry nephropathy in patients with the late-onset N215S variant, providing an insight into the clinical and histopathologic aspects of renal involvement in these individuals.
SUMMARY: The N215S (p.Asn215Ser) missense mutation represents the most common late-onset variant in European countries. In these patients, cardiac involvement is usually more prominent than extracardiac signs and symptoms, which is why this form is often referred to as a cardiac variant. Renal involvement in the N215S variant has historically been considered infrequent and relatively mild, contributing little to the overall disease burden of late-onset FD, as it has not been thoroughly investigated.
KEY MESSAGES: In this review, we examine Fabry nephropathy in patients with the late-onset N215S variant, providing an insight into the clinical and histopathologic aspects of renal involvement in these individuals.