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Major Organic Involvement in Women with Fabry Disease in Argentina

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of thi...

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Autores principales: Perretta, Fernando, Antongiovanni, Norberto, Jaurretche, Sebastián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987241/
https://www.ncbi.nlm.nih.gov/pubmed/29950951
http://dx.doi.org/10.1155/2018/6515613
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author Perretta, Fernando
Antongiovanni, Norberto
Jaurretche, Sebastián
author_facet Perretta, Fernando
Antongiovanni, Norberto
Jaurretche, Sebastián
author_sort Perretta, Fernando
collection PubMed
description Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group (n = 35) was 26.6 ± 16.9 years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.
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spelling pubmed-59872412018-06-27 Major Organic Involvement in Women with Fabry Disease in Argentina Perretta, Fernando Antongiovanni, Norberto Jaurretche, Sebastián ScientificWorldJournal Research Article Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group (n = 35) was 26.6 ± 16.9 years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis. Hindawi 2018-05-21 /pmc/articles/PMC5987241/ /pubmed/29950951 http://dx.doi.org/10.1155/2018/6515613 Text en Copyright © 2018 Fernando Perretta et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Perretta, Fernando
Antongiovanni, Norberto
Jaurretche, Sebastián
Major Organic Involvement in Women with Fabry Disease in Argentina
title Major Organic Involvement in Women with Fabry Disease in Argentina
title_full Major Organic Involvement in Women with Fabry Disease in Argentina
title_fullStr Major Organic Involvement in Women with Fabry Disease in Argentina
title_full_unstemmed Major Organic Involvement in Women with Fabry Disease in Argentina
title_short Major Organic Involvement in Women with Fabry Disease in Argentina
title_sort major organic involvement in women with fabry disease in argentina
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987241/
https://www.ncbi.nlm.nih.gov/pubmed/29950951
http://dx.doi.org/10.1155/2018/6515613
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