Early Renal Involvement in a Girl with Classic Fabry Disease
Joint Authors
Jaurretche, Sebastián
Perretta, Fernando
Antongiovanni, Norberto
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-10-01
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Perretta, Fernando& Antongiovanni, Norberto& Jaurretche, Sebastián. 2017. Early Renal Involvement in a Girl with Classic Fabry Disease. Case Reports in Nephrology،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1147038
Modern Language Association (MLA)
Perretta, Fernando…[et al.]. Early Renal Involvement in a Girl with Classic Fabry Disease. Case Reports in Nephrology No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1147038
American Medical Association (AMA)
Perretta, Fernando& Antongiovanni, Norberto& Jaurretche, Sebastián. Early Renal Involvement in a Girl with Classic Fabry Disease. Case Reports in Nephrology. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1147038
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147038