Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy
<p><strong>Background:</strong> Fabry disease (FD) is an X-linked inherited disorder of glycosphingolipids metabolism. Clinical manifestations, the course and the cause of death are markedly different among the patients. Before the use of enzyme replacement therapy patients with FD...
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| Format: | Article |
| Language: | English |
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Slovenian Medical Association
2006-12-01
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| Series: | Zdravniški Vestnik |
| Subjects: | |
| Online Access: | http://vestnik.szd.si/index.php/ZdravVest/article/view/2047 |
| _version_ | 1819209138680365056 |
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| author | Franc Verovnik |
| author_facet | Franc Verovnik |
| author_sort | Franc Verovnik |
| collection | DOAJ |
| description | <p><strong>Background:</strong> Fabry disease (FD) is an X-linked inherited disorder of glycosphingolipids metabolism. Clinical manifestations, the course and the cause of death are markedly different among the patients. Before the use of enzyme replacement therapy patients with FD died early in their life.</p><p><strong>Methods:</strong> Following the medical recordings, in this paper the clinical courses and causes of death are described for three patients with FD who died before the introduction of the enzyme replacement therapy.</p><p><strong>Results:</strong> Although three patients were brothers and had the same gene mutation, the clinical manifestations of FD were completly different in each of patient. The first had early neurogical symptoms, the second problems with heart and the third had early deterioration of renal function. They died early despite all possible therapeutic measurements.</p><p><strong>Conclusions:</strong> Early recognition of FD is extremely important. Nowadays it is possible to prevent the fatal complications and early death by means of modern effective enzyme replacement therapy.</p> |
| first_indexed | 2024-12-23T05:50:31Z |
| format | Article |
| id | doaj.art-c4aa88ed88874034915e06e14be1241d |
| institution | Directory Open Access Journal |
| issn | 1318-0347 1581-0224 |
| language | English |
| last_indexed | 2024-12-23T05:50:31Z |
| publishDate | 2006-12-01 |
| publisher | Slovenian Medical Association |
| record_format | Article |
| series | Zdravniški Vestnik |
| spelling | doaj.art-c4aa88ed88874034915e06e14be1241d2022-12-21T17:57:58ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242006-12-0175121535Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapyFranc Verovnik<p><strong>Background:</strong> Fabry disease (FD) is an X-linked inherited disorder of glycosphingolipids metabolism. Clinical manifestations, the course and the cause of death are markedly different among the patients. Before the use of enzyme replacement therapy patients with FD died early in their life.</p><p><strong>Methods:</strong> Following the medical recordings, in this paper the clinical courses and causes of death are described for three patients with FD who died before the introduction of the enzyme replacement therapy.</p><p><strong>Results:</strong> Although three patients were brothers and had the same gene mutation, the clinical manifestations of FD were completly different in each of patient. The first had early neurogical symptoms, the second problems with heart and the third had early deterioration of renal function. They died early despite all possible therapeutic measurements.</p><p><strong>Conclusions:</strong> Early recognition of FD is extremely important. Nowadays it is possible to prevent the fatal complications and early death by means of modern effective enzyme replacement therapy.</p>http://vestnik.szd.si/index.php/ZdravVest/article/view/2047Fabry diseasesymptomatic treatmentenzyme replacement therapy |
| spellingShingle | Franc Verovnik Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy Zdravniški Vestnik Fabry disease symptomatic treatment enzyme replacement therapy |
| title | Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| title_full | Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| title_fullStr | Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| title_full_unstemmed | Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| title_short | Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| title_sort | clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy |
| topic | Fabry disease symptomatic treatment enzyme replacement therapy |
| url | http://vestnik.szd.si/index.php/ZdravVest/article/view/2047 |
| work_keys_str_mv | AT francverovnik clinicalcourseandmanagementoffabrydiseaseinthreepatientsbeforetheintroductionofenzymereplacementtherapy |