Major Organic Involvement in Women with Fabry Disease in Argentina
Joint Authors
Jaurretche, Sebastián
Perretta, Fernando
Antongiovanni, Norberto
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-21
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Medicine
Information Technology and Computer Science
Abstract EN
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.
American Psychological Association (APA)
Perretta, Fernando& Antongiovanni, Norberto& Jaurretche, Sebastián. 2018. Major Organic Involvement in Women with Fabry Disease in Argentina. The Scientific World Journal،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1215647
Modern Language Association (MLA)
Perretta, Fernando…[et al.]. Major Organic Involvement in Women with Fabry Disease in Argentina. The Scientific World Journal No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1215647
American Medical Association (AMA)
Perretta, Fernando& Antongiovanni, Norberto& Jaurretche, Sebastián. Major Organic Involvement in Women with Fabry Disease in Argentina. The Scientific World Journal. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1215647
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1215647