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Ferritinemia and se...
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Lorenz, FryderykUmeå universitet,Onkologi
(författare)
Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1
- Artikel/kapitelEngelska2018
Förlag, utgivningsår, omfång ...
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ACADEMIC PRESS INC ELSEVIER SCIENCE,2018
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:umu-143707
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-143707URI
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https://doi.org/10.1016/j.bcmd.2016.10.010DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:137154783URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Background: The storage of glucosylceramide in macrophages produces an inflammatory response in Gaucher disease type 1 (GD1) resulting in iron metabolism dysregulation and cytokine release. Patients and methods: The study included 16 adults with GD1 aged 20-86 years. All but one patient carried at least one allele with the c.1226A > G (N370S) mutation in the GBA1 gene. Ferritinemia, iron metabolism profiles including hepcidin, and inflammatory cytokine concentrations were assessed in GD1 patients in Sweden. Results: Hyperferritinemia was present in 81% of patients. There was no correlation between hyperferritinemia and patient's gender, spleen status, or clinical status. Hepcidin was discrepantly low in relation to ferritin levels. TNF-alpha was moderately increased in 5 of 11 patients; 2 patients with the highest TNF-alpha concentrations showed mildly elevated IL-6 levels. The concentrations of IL-1 beta, IL-8, and IL-10 were normal in all patients. Upon treatment, ferritinemia ameliorated but S-ferritin levels did not normalize. The increased TNF-alpha level however, normalized in all treated patients, reaching the lowest values after 2 years of therapy and continued to be stable during the remaining 2 years of follow-up. Conclusions: Hyperferritinemia is a frequent finding in GD1 in Sweden. The relatively low hepcidin levels reveal a distorted relationship between hepcidin and ferritin in GD1. Therapy has the potential to not only ameliorate hyperferritinemia but to also normalize the serum TNF-alpha concentration in GD1.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Pawlowicz, Ewa
(författare)
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Klimkowska, Monika
(författare)
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Beshara, SoheirKarolinska Institutet
(författare)
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Brustad, Agnes Bulanda
(författare)
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Skotnicki, Aleksander B.
(författare)
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Wahlin, AndersUmeå universitet,Onkologi(Swepub:umu)anwa0027
(författare)
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Machaczka, MaciejKarolinska Institutet
(författare)
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Umeå universitetOnkologi
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Blood Cells, Molecules & Diseases: ACADEMIC PRESS INC ELSEVIER SCIENCE68, s. 35-421079-97961096-0961
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