Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick?
Background and aim: 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 s...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2024-03-01
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| Series: | Nefrología |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0211699523000024 |
| _version_ | 1797277400787058688 |
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| author | Hakan Ozer Ismail Baloglu Ali Topkac Yasin Ozturk Fethi Yonet Furkan Daglı İbrahim Kilinc Kultigin Turkmen |
| author_facet | Hakan Ozer Ismail Baloglu Ali Topkac Yasin Ozturk Fethi Yonet Furkan Daglı İbrahim Kilinc Kultigin Turkmen |
| author_sort | Hakan Ozer |
| collection | DOAJ |
| description | Background and aim: 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. Material-method: 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. Results: 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. Discussion: 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. Resumen: Antecedente y objetivo: 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 previamente que periostina juega un papel esencial en el proceso que causa la fibrosis renal, y que su expresión se incrementa en muchas enfermedades renales. En el presente estudio, nuestro objetivo fue revelar la relación entre la periostina y la nefropatía de Fabry. Material y método: Este estudio transversal incluyó 18 pacientes con EF (10 varones y 8 mujeres) con indicación de terapia enzimática (ERT) y 22 controles sanos con edad y sexo similares. En el momento del diagnóstico se escanearon del sistema hospitalario las pruebas de alfa-galactosidasa A (α-gal-A) plasmática y globotriaosilsfingosina (lyso-Gb3), proteinuria y función renal de todos los pacientes con EF antes de la ERT. Se analizó el nivel de periostina en las muestras séricas recogidas y almacenadas antes de realizar la ERT. Se investigaron los parámetros relacionados con los niveles séricos de periostina en la enfermedad de Fabry. Resultados: En los pacientes con EF, el nivel de periostina sérica se correlacionó negativamente con la edad del primer síntoma y la GFR, y positivamente con proteinuria y lyso-Gb3. En el análisis de regresión, encontramos que el nivel de periostina sérico fue el único determinante independiente de proteinuria en los pacientes con EF. Los niveles séricos de periostina fueron significativamente menores en los pacientes con baja proteinuria, correlacionándose los niveles séricos de periostina con proteinuria. Discusión: La periostina puede ser un marcador valioso de nefropatìa de Fabry y proteinuria. Periostina parece ser una de las moléculas que pueden jugar un papel importante en el manejo del proceso fibrótico en la nefropatía de Fabry. Creemos que merece investigar el papel de periostina entre estos mecanismos. Además de las ERT estándar, las terapias reductoras de periostina pueden contribuir a una mejor supervivencia del riñón en la EF. Los procesos de fibrosis progresiva causados por periostina en los pacientes con EF siguen constituyendo una cuestión poco conocida que debe esclarecerse. |
| first_indexed | 2024-03-07T15:47:58Z |
| format | Article |
| id | doaj.art-ea5ef2d047d744e9b2419f3e49bdec2c |
| institution | Directory Open Access Journal |
| issn | 0211-6995 |
| language | Spanish |
| last_indexed | 2024-03-07T15:47:58Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Nefrología |
| spelling | doaj.art-ea5ef2d047d744e9b2419f3e49bdec2c2024-03-05T04:29:27ZspaElsevierNefrología0211-69952024-03-01442217223Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick?Hakan Ozer0Ismail Baloglu1Ali Topkac2Yasin Ozturk3Fethi Yonet4Furkan Daglı5İbrahim Kilinc6Kultigin Turkmen7Nephrology Department, Meram School of Medicine, Necmettin Erbakan University, Konya, Turkey; Corresponding author.Nephrology Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyInternal Medicine Department, Nusaybin State Hospital, Mardin, TurkeyNephrology Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyNephrology Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyInternal Medicine Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyBiochemistry Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyNephrology Department, Meram School of Medicine, Necmettin Erbakan University, Konya, TurkeyBackground and aim: 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. Material-method: 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. Results: 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. Discussion: 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. Resumen: Antecedente y objetivo: 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 previamente que periostina juega un papel esencial en el proceso que causa la fibrosis renal, y que su expresión se incrementa en muchas enfermedades renales. En el presente estudio, nuestro objetivo fue revelar la relación entre la periostina y la nefropatía de Fabry. Material y método: Este estudio transversal incluyó 18 pacientes con EF (10 varones y 8 mujeres) con indicación de terapia enzimática (ERT) y 22 controles sanos con edad y sexo similares. En el momento del diagnóstico se escanearon del sistema hospitalario las pruebas de alfa-galactosidasa A (α-gal-A) plasmática y globotriaosilsfingosina (lyso-Gb3), proteinuria y función renal de todos los pacientes con EF antes de la ERT. Se analizó el nivel de periostina en las muestras séricas recogidas y almacenadas antes de realizar la ERT. Se investigaron los parámetros relacionados con los niveles séricos de periostina en la enfermedad de Fabry. Resultados: En los pacientes con EF, el nivel de periostina sérica se correlacionó negativamente con la edad del primer síntoma y la GFR, y positivamente con proteinuria y lyso-Gb3. En el análisis de regresión, encontramos que el nivel de periostina sérico fue el único determinante independiente de proteinuria en los pacientes con EF. Los niveles séricos de periostina fueron significativamente menores en los pacientes con baja proteinuria, correlacionándose los niveles séricos de periostina con proteinuria. Discusión: La periostina puede ser un marcador valioso de nefropatìa de Fabry y proteinuria. Periostina parece ser una de las moléculas que pueden jugar un papel importante en el manejo del proceso fibrótico en la nefropatía de Fabry. Creemos que merece investigar el papel de periostina entre estos mecanismos. Además de las ERT estándar, las terapias reductoras de periostina pueden contribuir a una mejor supervivencia del riñón en la EF. Los procesos de fibrosis progresiva causados por periostina en los pacientes con EF siguen constituyendo una cuestión poco conocida que debe esclarecerse.http://www.sciencedirect.com/science/article/pii/S0211699523000024Enfermedad de FabryPeriostina séricaProteinuria |
| spellingShingle | Hakan Ozer Ismail Baloglu Ali Topkac Yasin Ozturk Fethi Yonet Furkan Daglı İbrahim Kilinc Kultigin Turkmen Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? Nefrología Enfermedad de Fabry Periostina sérica Proteinuria |
| title | Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? |
| title_full | Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? |
| title_fullStr | Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? |
| title_full_unstemmed | Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? |
| title_short | Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? |
| title_sort | is just enzyme replacement therapy enough for fabry disease treatment have we missed a trick |
| topic | Enfermedad de Fabry Periostina sérica Proteinuria |
| url | http://www.sciencedirect.com/science/article/pii/S0211699523000024 |
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