Clinical heterogeneity in Fabry disease: A clinical case
Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic therapy.<b> </b>Clinical case of late (...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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National Scientific Medical Center
2023-08-01
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| Series: | Ķazaķstannyṇ Klinikalyķ Medicinasy |
| Subjects: | |
| Online Access: | https://www.clinmedkaz.org/download/clinical-heterogeneity-in-fabry-disease-a-clinical-case-13486.pdf |
| _version_ | 1797731319327752192 |
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| author | Assel Issabekova Olga Mashkunova |
| author_facet | Assel Issabekova Olga Mashkunova |
| author_sort | Assel Issabekova |
| collection | DOAJ |
| description | Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic therapy.<b> </b>Clinical case of late (relative to clinical manifestation) diagnosis of the “classical” phenotype of Fabry Disease in a male patient with cardiac and renal damage and typical early presentations such as neuropathic pain, angiokeratomas, hypohidrosis. |
| first_indexed | 2024-03-12T11:57:01Z |
| format | Article |
| id | doaj.art-c52afb357dde4654ab8dab252c02241e |
| institution | Directory Open Access Journal |
| issn | 1812-2892 2313-1519 |
| language | English |
| last_indexed | 2024-03-12T11:57:01Z |
| publishDate | 2023-08-01 |
| publisher | National Scientific Medical Center |
| record_format | Article |
| series | Ķazaķstannyṇ Klinikalyķ Medicinasy |
| spelling | doaj.art-c52afb357dde4654ab8dab252c02241e2023-08-30T16:20:11ZengNational Scientific Medical CenterĶazaķstannyṇ Klinikalyķ Medicinasy1812-28922313-15192023-08-01204687010.23950/jcmk/13486Clinical heterogeneity in Fabry disease: A clinical caseAssel Issabekova0Olga Mashkunova1Cardiology Department, Scientific Institution of Cardiology and Internal Diseases, Almaty, KazakhstanTherapeutic Department, National Medical University, Almaty, KazakhstanFabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic therapy.<b> </b>Clinical case of late (relative to clinical manifestation) diagnosis of the “classical” phenotype of Fabry Disease in a male patient with cardiac and renal damage and typical early presentations such as neuropathic pain, angiokeratomas, hypohidrosis.https://www.clinmedkaz.org/download/clinical-heterogeneity-in-fabry-disease-a-clinical-case-13486.pdfFabry diseaseα-galactosidaseglobotriaosylceramideagalsidase. |
| spellingShingle | Assel Issabekova Olga Mashkunova Clinical heterogeneity in Fabry disease: A clinical case Ķazaķstannyṇ Klinikalyķ Medicinasy Fabry disease α-galactosidase globotriaosylceramide agalsidase. |
| title | Clinical heterogeneity in Fabry disease: A clinical case |
| title_full | Clinical heterogeneity in Fabry disease: A clinical case |
| title_fullStr | Clinical heterogeneity in Fabry disease: A clinical case |
| title_full_unstemmed | Clinical heterogeneity in Fabry disease: A clinical case |
| title_short | Clinical heterogeneity in Fabry disease: A clinical case |
| title_sort | clinical heterogeneity in fabry disease a clinical case |
| topic | Fabry disease α-galactosidase globotriaosylceramide agalsidase. |
| url | https://www.clinmedkaz.org/download/clinical-heterogeneity-in-fabry-disease-a-clinical-case-13486.pdf |
| work_keys_str_mv | AT asselissabekova clinicalheterogeneityinfabrydiseaseaclinicalcase AT olgamashkunova clinicalheterogeneityinfabrydiseaseaclinicalcase |