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Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis

Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable FD phenotype, ranging from asymptomatic and/or imp...

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Autores principales: Battaglia, Yuri, Fiorini, Fulvio, Azzini, Cristiano, Esposito, Pasquale, De vito, Alessandro, Granata, Antonio, Storari, Alda, Mignani, Renzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900152/
https://www.ncbi.nlm.nih.gov/pubmed/33634157
http://dx.doi.org/10.3389/fmed.2021.640876
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author Battaglia, Yuri
Fiorini, Fulvio
Azzini, Cristiano
Esposito, Pasquale
De vito, Alessandro
Granata, Antonio
Storari, Alda
Mignani, Renzo
author_facet Battaglia, Yuri
Fiorini, Fulvio
Azzini, Cristiano
Esposito, Pasquale
De vito, Alessandro
Granata, Antonio
Storari, Alda
Mignani, Renzo
author_sort Battaglia, Yuri
collection PubMed
description Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable FD phenotype, ranging from asymptomatic and/or impairment of single organs, which is typically seen in females and in patients with late-onset mutation, to multiple organ disease, which is frequently found in males with classic GLA mutation. Consequently, for an early diagnosis and an efficient treatment of FD, three different strategies of screening, new-born screening, high-risk screening and familiar screening, have been conducted. However, most of FD screening in the CKD population has been carried out in hemodialysis patients and kidney transplant recipients, for whom the renal damage is already irreversible, so the effectiveness of enzymatic replacement therapy is limited and delayed therapeutic intervention results in worse long-term outcomes. This review investigates the actual strategies of screening initiatives for the identification of FD, examining in detail those performed in CKD patients not on dialysis.
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spelling pubmed-79001522021-02-24 Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis Battaglia, Yuri Fiorini, Fulvio Azzini, Cristiano Esposito, Pasquale De vito, Alessandro Granata, Antonio Storari, Alda Mignani, Renzo Front Med (Lausanne) Medicine Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of GLA. Misdiagnosed and undiagnosed FD cases are common for the variable FD phenotype, ranging from asymptomatic and/or impairment of single organs, which is typically seen in females and in patients with late-onset mutation, to multiple organ disease, which is frequently found in males with classic GLA mutation. Consequently, for an early diagnosis and an efficient treatment of FD, three different strategies of screening, new-born screening, high-risk screening and familiar screening, have been conducted. However, most of FD screening in the CKD population has been carried out in hemodialysis patients and kidney transplant recipients, for whom the renal damage is already irreversible, so the effectiveness of enzymatic replacement therapy is limited and delayed therapeutic intervention results in worse long-term outcomes. This review investigates the actual strategies of screening initiatives for the identification of FD, examining in detail those performed in CKD patients not on dialysis. Frontiers Media S.A. 2021-02-09 /pmc/articles/PMC7900152/ /pubmed/33634157 http://dx.doi.org/10.3389/fmed.2021.640876 Text en Copyright © 2021 Battaglia, Fiorini, Azzini, Esposito, De vito, Granata, Storari and Mignani. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Battaglia, Yuri
Fiorini, Fulvio
Azzini, Cristiano
Esposito, Pasquale
De vito, Alessandro
Granata, Antonio
Storari, Alda
Mignani, Renzo
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title_full Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title_fullStr Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title_full_unstemmed Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title_short Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
title_sort deficiency in the screening process of fabry disease: analysis of chronic kidney patients not on dialysis
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900152/
https://www.ncbi.nlm.nih.gov/pubmed/33634157
http://dx.doi.org/10.3389/fmed.2021.640876
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