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  • Lorenz, FryderykUmeå universitet,Onkologi (author)

Ferritinemia and serum inflammatory cytokines in Swedish adults with Gaucher disease type 1

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • ACADEMIC PRESS INC ELSEVIER SCIENCE,2018
  • printrdacarrier

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  • LIBRIS-ID:oai:DiVA.org:umu-143707
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-143707URI
  • https://doi.org/10.1016/j.bcmd.2016.10.010DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:137154783URI

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  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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. 

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Added entries (persons, corporate bodies, meetings, titles ...)

  • Pawlowicz, Ewa (author)
  • Klimkowska, Monika (author)
  • Beshara, SoheirKarolinska Institutet (author)
  • Brustad, Agnes Bulanda (author)
  • Skotnicki, Aleksander B. (author)
  • Wahlin, AndersUmeå universitet,Onkologi(Swepub:umu)anwa0027 (author)
  • Machaczka, MaciejKarolinska Institutet (author)
  • Umeå universitetOnkologi (creator_code:org_t)

Related titles

  • In:Blood Cells, Molecules & Diseases: ACADEMIC PRESS INC ELSEVIER SCIENCE68, s. 35-421079-97961096-0961

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