Beaton, B; Hughes, DA; (2024) Soluble mannose receptor: A potential biomarker in Gaucher disease. European Journal of Haematology 10.1111/ejh.14171. (In press).

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Abstract

Purpose: Soluble mannose receptor (sMR) relates to mannose receptor expression on macrophages, and is elevated in inflammatory disorders. Gaucher disease (GD) has altered macrophage function and utilises mannose receptors for enzyme replacement therapy (ERT) endocytosis. sMR has not previously been studied in GD. Methods: sMR was measured by ELISA and correlated with GD clinical features including spleen and liver volume, haemoglobin and platelet count, bone marrow burden (BMB) scores and immunoglobulin levels. sMR was compared with biomarkers of GD: chitotriosidase, lyso-GL1, PARC, CCL3, CCL4, osteoactivin, serum ACE and ferritin. Results: Median sMR in untreated GD patients was 303.0 ng/mL compared to post-treatment 190.9 ng/mL (p =.02) and healthy controls 202 ng/mL. Median sMR correlated with median spleen volume 455 mL (r =.70, p =.04), liver volume 2025 mL (r =.64, p =.04), BMB 7 (r =.8, p =.03), IgA 1.9 g/L (r =.54, p =.036), IgG 9.2 g/L (r =.57, p =.027), IgM 1.45 g/L (r =.86, p <.0001), with inverse correlation to median platelet count of 125 × 109/L (r = −.47, p =.08) and haemoglobin of 137 g/L (r = −.77, p =.0008). sMR correlated with established biomarkers: osteoactivin 107.8 ng/mL (r =.58, p =.0006), chitotriosidase 3042 nmol/mL/h (r =.52, p =.0006), PARC 800 ng/mL (r =.67, p =.0068), ferritin 547 μg/L (r =.72, p =.002) and CCL3 50 pg/mL (r =.67, p =.007). Conclusions: sMR correlates with clinical features and biomarkers of GD and reduces following therapy.

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