Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients.

Autor: Hovakimyan M; CENTOGENE AG, Rostock, Germany., Talabattula VAN; CENTOGENE AG, Rostock, Germany., Cozma C; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany. Electronic address: christian.beetz@centogene.com., Rolfs A; CENTOGENE AG, Rostock, Germany; Medical Faculty, University of Rostock, Rostock, Germany., Elstein D; Independent consultant, Jerusalem, Israel.
Jazyk: angličtina
Zdroj: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2020 Feb; Vol. 80, pp. 102379. Date of Electronic Publication: 2019 Oct 30.
DOI: 10.1016/j.bcmd.2019.102379
Abstrakt: Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA. It manifests in hemizygous males and in many heterozygous females. Cardiovascular and renal involvement are frequent. Adiponectin is a circulating hormone that has been linked to numerous disease conditions including heart and kidney failure. In the present pilot study, we investigated plasma adiponectin levels in a cohort of 56 individuals with a genetic diagnosis of Fabry disease. Adiponectin levels did not differ between patients and controls. However, in male patients, significantly decreased adiponectin levels were associated with cardiovascular manifestation, while increased levels were associated with renal involvement. Similar trends in female patients did not reach statistical significance. Lyso-Gb3, a metabolite with good diagnostic/screening performance, was not indicative of organ involvement. In combination, adiponectin and Lyso-Gb3 may be of value for identification and stratification of Fabry patients. A potential additional relevance for prognosis and monitoring should be addressed by future studies in larger cohorts.
(Copyright © 2019 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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