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Early Renal Involvement in a Girl with Classic Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversia...

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Autores principales: Perretta, Fernando, Antongiovanni, Norberto, Jaurretche, Sebastián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642869/
https://www.ncbi.nlm.nih.gov/pubmed/29098097
http://dx.doi.org/10.1155/2017/9543079
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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 is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.
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spelling pubmed-56428692017-11-02 Early Renal Involvement in a Girl with Classic Fabry Disease Perretta, Fernando Antongiovanni, Norberto Jaurretche, Sebastián Case Rep Nephrol Case Report Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported. Hindawi 2017 2017-10-01 /pmc/articles/PMC5642869/ /pubmed/29098097 http://dx.doi.org/10.1155/2017/9543079 Text en Copyright © 2017 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 Case Report
Perretta, Fernando
Antongiovanni, Norberto
Jaurretche, Sebastián
Early Renal Involvement in a Girl with Classic Fabry Disease
title Early Renal Involvement in a Girl with Classic Fabry Disease
title_full Early Renal Involvement in a Girl with Classic Fabry Disease
title_fullStr Early Renal Involvement in a Girl with Classic Fabry Disease
title_full_unstemmed Early Renal Involvement in a Girl with Classic Fabry Disease
title_short Early Renal Involvement in a Girl with Classic Fabry Disease
title_sort early renal involvement in a girl with classic fabry disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642869/
https://www.ncbi.nlm.nih.gov/pubmed/29098097
http://dx.doi.org/10.1155/2017/9543079
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