The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
| Autor: | Kristiane Michelin Tirelli, Lívia D'Avila Paskulin, Filippo Vairo, Marina Siebert, Tiago de Bone Koppe, Matheus Brunstein Camargo, Divair Doneda, Ida Vanessa Doederlein Schwartz, Liane Esteves Daudt |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty lcsh:QH426-470 Ferritin levels Disease Gaucher disease Gastroenterology 03 medical and health sciences Chart review Internal medicine Doença de Gaucher Genetics medicine Substrate reduction therapy iron metabolism Molecular Biology Serum ferritin Ferritin biology Ferritina Ferro [Metabolismo] ferritin biomarkers Iron metabolism lcsh:Genetics 030104 developmental biology Biomarcadores Human and Medical Genetics Cohort biology.protein Ferritinas Biomarker (medicine) Biomarkers |
| Zdroj: | Genetics and Molecular Biology, Vol 39, Iss 1, Pp 30-34 (2016) Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Genetics and Molecular Biology v.39 n.1 2016 Genetics and Molecular Biology Sociedade Brasileira de Genética (SBG) instacron:SBG Genetics and Molecular Biology, Volume: 39, Issue: 1, Pages: 30-34, Published: MAR 2016 |
| ISSN: | 1678-4685 |
| Popis: | The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy (n = 2), and ferritin was found to decrease from 756 [318-1441] ng/mL at baseline to 521 [227-626] ng/mL (p=0.025) after 28.8 month soft treatment. Serum ferritin levels did not correlate with measures of disease severity, but showed an association with age at onset of treatment (ρ= 0.880; n = 18; p < 0.001). In conclusion, although serum ferritin did not correlate with disease severity, after a median 28.8 months of treatment, clinical outcomes had clearly improved, and ferritin levels had decreased. |
| Databáze: | OpenAIRE |
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