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Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is oft...

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Detalles Bibliográficos
Autores principales: Jamboti, Jagadish, Forrest, Cynthia H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society of Diabetic Nephropathy Prevention 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607972/
https://www.ncbi.nlm.nih.gov/pubmed/28975091
http://dx.doi.org/10.15171/jnp.2017.22
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author Jamboti, Jagadish
Forrest, Cynthia H
author_facet Jamboti, Jagadish
Forrest, Cynthia H
author_sort Jamboti, Jagadish
collection PubMed
description BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. Enzyme replacement started early might reverse the organ damage while delayed initiation may only stabilize the disease progression. CASE PRESENTATION: We describe a patient in whom involvement of different organs unfolded at different times and a detailed review of history by the clinician led to the diagnosis. The importance of electron microscopy (EM) of renal biopsy is highlighted. CONCLUSIONS: Patients with FD are often diagnosed late because the manifestations can be variable and spread over different time periods. Detailed history including family history and examining the renal biopsy by EM are crucial for early diagnosis.
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spelling pubmed-56079722017-10-03 Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed Jamboti, Jagadish Forrest, Cynthia H J Nephropathol Case Report BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. Enzyme replacement started early might reverse the organ damage while delayed initiation may only stabilize the disease progression. CASE PRESENTATION: We describe a patient in whom involvement of different organs unfolded at different times and a detailed review of history by the clinician led to the diagnosis. The importance of electron microscopy (EM) of renal biopsy is highlighted. CONCLUSIONS: Patients with FD are often diagnosed late because the manifestations can be variable and spread over different time periods. Detailed history including family history and examining the renal biopsy by EM are crucial for early diagnosis. Society of Diabetic Nephropathy Prevention 2017-07 2017-02-05 /pmc/articles/PMC5607972/ /pubmed/28975091 http://dx.doi.org/10.15171/jnp.2017.22 Text en © 2017 The Author(s) Published by Society of Diabetic Nephropathy Prevention. 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 Case Report
Jamboti, Jagadish
Forrest, Cynthia H
Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title_full Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title_fullStr Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title_full_unstemmed Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title_short Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
title_sort fabry disease; early diagnosis improves prognosis but diagnosis is often delayed
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607972/
https://www.ncbi.nlm.nih.gov/pubmed/28975091
http://dx.doi.org/10.15171/jnp.2017.22
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