THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1
<p>Background. Accumulation of glucocerebroside in spleen, liver, bone marrow and bones, but rarely in other organs, due to inborn deficiency of lisosomal enzyme glucocerebrosidase leads to Gaucher disease. The most common is type 1, chronic non-neuronopathic form of Gaucher disease. In type 1...
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doaj-a94fe07ab180400fa3b090be892737de2020-11-24T22:57:42ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242003-12-0172121396THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1Majda Benedik-Dolničar0Lidija Kitanovski1Služba za onkologijo in hematologijo Pediatrična klinika Klinični center Vrazov trg 1 1525 LjubljanaSlužba za onkologijo in hematologijo Pediatrična klinika Klinični center Vrazov trg 1 1525 Ljubljana<p>Background. Accumulation of glucocerebroside in spleen, liver, bone marrow and bones, but rarely in other organs, due to inborn deficiency of lisosomal enzyme glucocerebrosidase leads to Gaucher disease. The most common is type 1, chronic non-neuronopathic form of Gaucher disease. In type 1 the central nervous system is not affected and clinical presentations are variable. It could be a mild disease not necessitating therapy or a more severe one which sometimes results even in disability. In such cases the replacement enzyme therapy is reasonable and the dose should be adjusted to the severity of the illness. It improves the patient’s condition and prevents the progression of the disease.</p><p>Conclusions. This article emphasises the guidelines for the management of patients with Gaucher disease, type 1. Recommendations for diagnostic approach and follow up of the patients as well as groups of patients necessitating a replacement enzyme therapy at appropriate doses are defined and stated.<br /><br /></p>http://vestnik.szd.si/index.php/ZdravVest/article/view/1895Gaucherguidelinesmanagementdiagnostictreatment |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Majda Benedik-Dolničar Lidija Kitanovski |
spellingShingle |
Majda Benedik-Dolničar Lidija Kitanovski THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 Zdravniški Vestnik Gaucher guidelines management diagnostic treatment |
author_facet |
Majda Benedik-Dolničar Lidija Kitanovski |
author_sort |
Majda Benedik-Dolničar |
title |
THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 |
title_short |
THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 |
title_full |
THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 |
title_fullStr |
THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 |
title_full_unstemmed |
THE MANAGEMENT OF PATIENTS WITH GAUCHER DISEASE, TYPE 1 |
title_sort |
management of patients with gaucher disease, type 1 |
publisher |
Slovenian Medical Association |
series |
Zdravniški Vestnik |
issn |
1318-0347 1581-0224 |
publishDate |
2003-12-01 |
description |
<p>Background. Accumulation of glucocerebroside in spleen, liver, bone marrow and bones, but rarely in other organs, due to inborn deficiency of lisosomal enzyme glucocerebrosidase leads to Gaucher disease. The most common is type 1, chronic non-neuronopathic form of Gaucher disease. In type 1 the central nervous system is not affected and clinical presentations are variable. It could be a mild disease not necessitating therapy or a more severe one which sometimes results even in disability. In such cases the replacement enzyme therapy is reasonable and the dose should be adjusted to the severity of the illness. It improves the patient’s condition and prevents the progression of the disease.</p><p>Conclusions. This article emphasises the guidelines for the management of patients with Gaucher disease, type 1. Recommendations for diagnostic approach and follow up of the patients as well as groups of patients necessitating a replacement enzyme therapy at appropriate doses are defined and stated.<br /><br /></p> |
topic |
Gaucher guidelines management diagnostic treatment |
url |
http://vestnik.szd.si/index.php/ZdravVest/article/view/1895 |
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