Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick?

• Published in: Nefrología 2024-03, Vol.44 (2), p.217-223
• Main Authors: Ozer, Hakan, Baloglu, Ismail, Topkac, Ali, Ozturk, Yasin, Yonet, Fethi, Daglı, Furkan, Kilinc, İbrahim, Turkmen, Kultigin
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; alpha-Galactosidase - therapeutic use; Cell Adhesion Molecules - blood; Cross-Sectional Studies; Enfermedad de Fabry; Enzyme Replacement Therapy; Fabry disease; Fabry Disease - complications; Fabry Disease - drug therapy; Female; Glomerular Filtration Rate; Glycolipids - blood; Humans; Kidney Diseases - etiology; Male; Middle Aged; Periostina sérica; Proteinuria; Proteinuria - etiology; Serum periostin; Sphingolipids - blood; Young Adult
• ISSN: 0211-6995; 2013-2514
• DOI: 10.1016/j.nefro.2023.01.002

In Fabry disease (FD), primary factors such as glycosphingolipid deposition that initiate kidney damage and secondary factors that advance kidney damage to fibrosis are different. Periostin is a molecule of proven importance in renal inflammation and fibrosis. It was previously shown that periostin plays an essential role in the process leading to renal fibrosis and its expression is increased in many kidney diseases. In the present study, we aimed to reveal the relationship between periostin and Fabry nephropathy. This cross-sectional study included 18 FD patients (10 males, 8 females) with enzyme replacement therapy (ERT) indications and 22 healthy control patients of similar age and gender. At the time of diagnosis, plasma alpha-galactosidase A (α-gal-A) and globotriaosylsphingosine (lyso-Gb3), proteinuria, and kidney function tests of all FD patients before ERT were scanned from the hospital system. Periostin was studied from serum samples collected and stored before ERT. Parameters related to serum periostin levels in Fabry disease were investigated. In FD patients, serum periostin was negatively correlated with age of first symptom and GFR; and positively correlated with proteinuria and lyso-Gb3. In regression analysis, we found that serum periostin was the only independent determinant of proteinuria in patients with Fabry disease. The serum periostin levels were significantly lower in patients with low proteinuria, and the serum periostin levels were correlated with proteinuria. Periostin may be a valuable marker of Fabry nephropathy and proteinuria. Periostin seems to be one of the molecules that may have an important role in the management of the fibrotic process in Fabry nephropathy. We think that the role of periostin among these mechanisms is worth investigating. In addition to standard ERTs, periostin-reducing therapies may contribute to better kidney survival in Fabry disease. Progressive fibrosis processes caused by periostin in patients with Fabry disease are still a hidden issue waiting to be clarified. Progressive fibrosis processes caused by periostin in Fabry patients are still a hidden issue waiting to be clarified. En la enfermedad de Fabry (EF), son diferentes los factores primarios tales como el depósito de glicoesfingolípidos que inicia el daño renal, y los factores secundarios que progresan de daño renal a fibrosis. Periostina es una molécula de importancia probada en la inflamación renal y la fibrosis. Se ha demostrado previament