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Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study

Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information o...

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Autores principales: Yeniçerioğlu, Yavuz, Akdam, Hakan, Dursun, Belda, Alp, Alper, Sağlam Eyiler, Funda, Akın, Davut, Gün, Yelda, Hüddam, Bülent, Batmazoğlu, Mehmet, Gibyeli Genek, Dilek, Pirinççi, Serhat, Ersoy, İsmail Rıfkı, Üzüm, Atilla, Soypaçacı, Zeki, Tanrısev, Mehmet, Çolak, Hülya, Demiral Sezer, Sibel, Bozkurt, Gökay, Akyıldız, Utku Oğan, Akyüz Ünsal, Ayşe İpek, Ünübol, Mustafa, Uslu, Meltem, Eryılmaz, Ufuk, Günel, Ceren, Meteoğlu, İbrahim, Yavaşoğlu, İrfan, Ünsal, Alparslan, Akar, Harun, Okyay, Pınar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014365/
https://www.ncbi.nlm.nih.gov/pubmed/27832731
http://dx.doi.org/10.1080/0886022X.2016.1254656
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author Yeniçerioğlu, Yavuz
Akdam, Hakan
Dursun, Belda
Alp, Alper
Sağlam Eyiler, Funda
Akın, Davut
Gün, Yelda
Hüddam, Bülent
Batmazoğlu, Mehmet
Gibyeli Genek, Dilek
Pirinççi, Serhat
Ersoy, İsmail Rıfkı
Üzüm, Atilla
Soypaçacı, Zeki
Tanrısev, Mehmet
Çolak, Hülya
Demiral Sezer, Sibel
Bozkurt, Gökay
Akyıldız, Utku Oğan
Akyüz Ünsal, Ayşe İpek
Ünübol, Mustafa
Uslu, Meltem
Eryılmaz, Ufuk
Günel, Ceren
Meteoğlu, İbrahim
Yavaşoğlu, İrfan
Ünsal, Alparslan
Akar, Harun
Okyay, Pınar
author_facet Yeniçerioğlu, Yavuz
Akdam, Hakan
Dursun, Belda
Alp, Alper
Sağlam Eyiler, Funda
Akın, Davut
Gün, Yelda
Hüddam, Bülent
Batmazoğlu, Mehmet
Gibyeli Genek, Dilek
Pirinççi, Serhat
Ersoy, İsmail Rıfkı
Üzüm, Atilla
Soypaçacı, Zeki
Tanrısev, Mehmet
Çolak, Hülya
Demiral Sezer, Sibel
Bozkurt, Gökay
Akyıldız, Utku Oğan
Akyüz Ünsal, Ayşe İpek
Ünübol, Mustafa
Uslu, Meltem
Eryılmaz, Ufuk
Günel, Ceren
Meteoğlu, İbrahim
Yavaşoğlu, İrfan
Ünsal, Alparslan
Akar, Harun
Okyay, Pınar
author_sort Yeniçerioğlu, Yavuz
collection PubMed
description Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease. Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m(2), 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease.
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spelling pubmed-60143652018-06-28 Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study Yeniçerioğlu, Yavuz Akdam, Hakan Dursun, Belda Alp, Alper Sağlam Eyiler, Funda Akın, Davut Gün, Yelda Hüddam, Bülent Batmazoğlu, Mehmet Gibyeli Genek, Dilek Pirinççi, Serhat Ersoy, İsmail Rıfkı Üzüm, Atilla Soypaçacı, Zeki Tanrısev, Mehmet Çolak, Hülya Demiral Sezer, Sibel Bozkurt, Gökay Akyıldız, Utku Oğan Akyüz Ünsal, Ayşe İpek Ünübol, Mustafa Uslu, Meltem Eryılmaz, Ufuk Günel, Ceren Meteoğlu, İbrahim Yavaşoğlu, İrfan Ünsal, Alparslan Akar, Harun Okyay, Pınar Ren Fail Clinical Study Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15–1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry’s disease in chronic kidney disease. Methods: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. Results: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m(2), 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients’ α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry’s disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Conclusion: Fabry’s disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry’s disease. Taylor & Francis 2016-11-10 /pmc/articles/PMC6014365/ /pubmed/27832731 http://dx.doi.org/10.1080/0886022X.2016.1254656 Text en © 2016 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. http://creativecommons.org/Licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/Licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Study
Yeniçerioğlu, Yavuz
Akdam, Hakan
Dursun, Belda
Alp, Alper
Sağlam Eyiler, Funda
Akın, Davut
Gün, Yelda
Hüddam, Bülent
Batmazoğlu, Mehmet
Gibyeli Genek, Dilek
Pirinççi, Serhat
Ersoy, İsmail Rıfkı
Üzüm, Atilla
Soypaçacı, Zeki
Tanrısev, Mehmet
Çolak, Hülya
Demiral Sezer, Sibel
Bozkurt, Gökay
Akyıldız, Utku Oğan
Akyüz Ünsal, Ayşe İpek
Ünübol, Mustafa
Uslu, Meltem
Eryılmaz, Ufuk
Günel, Ceren
Meteoğlu, İbrahim
Yavaşoğlu, İrfan
Ünsal, Alparslan
Akar, Harun
Okyay, Pınar
Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title_full Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title_fullStr Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title_full_unstemmed Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title_short Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
title_sort screening fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
topic Clinical Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014365/
https://www.ncbi.nlm.nih.gov/pubmed/27832731
http://dx.doi.org/10.1080/0886022X.2016.1254656
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