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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1155/2018/6515613 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832550388234977280 |
|---|---|
| author | Fernando Perretta Norberto Antongiovanni Sebastián Jaurretche |
| author_facet | Fernando Perretta Norberto Antongiovanni Sebastián Jaurretche |
| author_sort | Fernando Perretta |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-f290f207553f403aa678259130159bce |
| institution | Kabale University |
| issn | 2356-6140 1537-744X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-f290f207553f403aa678259130159bce2025-02-03T06:06:58ZengWileyThe Scientific World Journal2356-61401537-744X2018-01-01201810.1155/2018/65156136515613Major Organic Involvement in Women with Fabry Disease in ArgentinaFernando Perretta0Norberto Antongiovanni1Sebastián Jaurretche2Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Buenos Aires, ArgentinaGINEF (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, ArgentinaGINEF (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, ArgentinaFabry 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.http://dx.doi.org/10.1155/2018/6515613 |
| spellingShingle | Fernando Perretta Norberto Antongiovanni Sebastián Jaurretche Major Organic Involvement in Women with Fabry Disease in Argentina The Scientific World Journal |
| 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 |
| url | http://dx.doi.org/10.1155/2018/6515613 |
| work_keys_str_mv | AT fernandoperretta majororganicinvolvementinwomenwithfabrydiseaseinargentina AT norbertoantongiovanni majororganicinvolvementinwomenwithfabrydiseaseinargentina AT sebastianjaurretche majororganicinvolvementinwomenwithfabrydiseaseinargentina |